Detection method for chromosome abnormality and microarray chip

ABSTRACT

The present invention relates to a method of detecting a chromosome abnormality and a microarray chip for detecting a chromosome abnormality. More specifically, the present invention is directed to a method of detection for chromosome abnormality in order to easily diagnosing the health condition and disease of the subject by detecting of the chromosome abnormality rapidly and precisely, and to providing a probe for diagnosis of disease by identifying chromosome abnormality specific to the disease.

CROSS REFERENCE TO RELATED APPLICATION

This application claims priority to and the benefit of Korean Application No. 10-2004-0066384 filed in the Korean Patent Office on Aug. 23, 2004, the entire content of which is incorporated hereinto by reference.

FIELD OF THE INVENTION

The present invention relates to a method of detection for chromosome abnormality. More specifically, the present invention is directed to a method of detection for chromosome abnormality in order to easily diagnose the health condition and disease of the subject by detecting a chromosome abnormality rapidly and precisely, and to provides a probe for diagnosis of a disease by identifying the chromosome abnormality specific to the disease.

BACKGROUND OF THE INVENTION

Chromosome abnormality is associated with genetic defect and degenerative disease. The chromosome abnormality can be a deletion or duplication of a chromosome, a deletion or duplication of a part of chromosome, or a break, translocation, or inversion in the chromosome. The chromosome abnormality is a disturbance in the genetic balance and causes fetal death or serious defect in physical and mental states. For examples, Down's syndrome is a common abnormality of chromosome number caused by the presence of a third chromosome 21. Edwards syndrome (18+), Patau syndrome (13+), Turner syndrome (XO) and Klinefelter syndrome (XXY) also belong to abnormalities in chromosome number.

The chromosome abnormality can be detected by using Karyotype, and Fluorescent In Situ Hybridization (FISH). The detection methods have disadvantages in terms of time, labor and accuracy. Moreover, the Karyotype requires much time in cell culture. FISH can only be used for samples where the nucleic acid sequence and chromosomal location are known. Comparative genome hybridization (CGH) can be used to avoid problems of FISH. CGH can analyze a whole genome to detect the part where chromosome number abnormality occurs. However, the disadvantage of CGH has a low resolution compared to FISH.

In a different approach, DNA microarrays can be used for detecting the chromosome abnormality. DNA microarray systems are classified into cDNA microarrays, oligonucleotide microarrays, and genome microarrays, depending upon the bio-molecules immobilized on the microarray. Even though cDNA microarrays and oligonucleotide microarrays are easily prepared, the systems have the disadvantages of the limitation in the number of probes immobilized on the microarray, high cost of probe preparation, and difficulty in detecting a chromosome abnormality located external to the probe. In particular, for genomic DNA microarray systems, although the probe can be easily made, and can detect chromosome abnormalities in the expansive area of the chromosome, and also in intron areas of the chromosome, it is difficult to prepare a large number of DNA fragments where the chromosomal location and function are identified.

Bacterial Artificial Chromosome (BAC) clones includes BAC vectors containing a certain size fragment of the whole human genome. Because a BAC clone includes one fragment of a human DNA, the BAC clone corresponding to a specific part of a chromosome can be arrayed by analyzing the nucleic acid sequence and chromosomal location of the inserted DNA. Thus, specific DNA fragments can be easily obtained from each BAC clone.

SUMMARY OF THE INVENTION

In one embodiment, the present invention provides a method of preparing a genomic DNA microarray for detecting chromosome abnormality.

In another embodiment, the present invention provides a method of preparing a microarray in which at least two probes are immobilized in one spot.

In yet another embodiment, the present invention provides a DNA chip for detecting chromosome abnormality in the whole human genome.

In yet another embodiment, the present invention provides a DNA chip for detecting at least one disease selected from the group consisting of Down's syndrome, Patau syndrome, Edwards syndrome, Turner syndrome, Klinefelter syndrome, ATR-16 (alpha-thalassemia retardation) syndrome, CAT1A (Charcot-Marie-Tooth neuropathy 1A), Cri-du-chat syndrome, Digeorge syndrome, HNPP (Hereditary Neuropathy with liability to pressure palsies) disease, Kallmann syndrome, Miller-Dieker syndrome, Prader-willi syndrome, Rubinstein-taybi syndrome, Smith-magenes syndrome, Steroid-sulfatase gene syndrome, Williams syndrome, Wolf-hirschhorn syndrome, and constitutional diseases checked pre- or post-natally.

In yet another embodiment, the present invention provides a method of detecting chromosome abnormality with a microarray for use in detecting chromosome abnormality.

In yet another embodiment of the present invention is provided with a diagnosis method for disease of chromosome number abnormality by using a microarray for detecting chromosome abnormality.

In yet another embodiment of the present invention is provided with a method for detecting chromosome abnormality specific to disease by using the microarray for detecting chromosome abnormality.

BRIEF DESCRIPTION OF THE DRAWING

The patent or application file contains at least one drawing executed in color. Copies of this patent or patent application publication with color drawing(s) will be provided by the Office upon request and payment of the necessary fee.

A more complete appreciation of the invention, and many of the attendant advantages thereof, will be readily apparent as the same becomes better understood by reference to the following detailed description when considered in conjunction with the accompanying drawing, wherein:

FIG. 1 is a restriction map of the vector pECBAC1.

FIG. 2 a to FIG. 2 h represent the chromosomal location of the probes used for preparing the BAC chip in accordance with Example 2.

FIG. 3 shows structure of BAC chip in accordance with Example 2.

FIG. 4 a to FIG. 4 f show the location of specific probe in chromosome on BAC chip accordance with Example 2.

FIG. 5 represents analysis result for BAC chip of female patient with Patau syndrome.

FIG. 6 represents analysis result for BAC chip of male patient with Patau syndrome.

FIG. 7 represents analysis result for BAC chip of male patient with Edwards syndrome.

FIG. 8 represents analysis result for BAC chip of female patient with Edwards syndrome.

FIG. 9 represents analysis result for BAC chip of female patient with Down's syndrome.

FIG. 10 represents analysis result for BAC chip of female patient with duplication of chromosome 21 and X chromosome (karyotype XXY).

FIG. 11 represents analysis result for BAC chip of patient with Turner syndrome.

FIG. 12 represents analysis result for BAC chip of patient with Klinefelter syndrome.

FIG. 13 represents analysis result for BAC chip of normal woman.

FIG. 14 represents analysis result for BAC chip of normal man.

FIG. 15 represents analysis result for BAC chip of female patient with Down's syndrome.

DETAILED DESCRIPTION

The present invention relates to a method of preparation for a genomic DNA microarray for detecting a chromosome abnormality comprising the steps of:

(a) identifying genomic DNA fragment inserted to each clone which is obtained from organism's genomic library;

(b) selecting target chromosomal region to be detected for chromosome abnormality;

(c) selecting at least a genomic DNA fragment as a probe for detecting the target chromosomal region in genomic DNA fragments identified in step (a),

wherein the probe has a single chromosomal locus, includes repetitive sequence in the amount of at most 85% of the probe nucleotide, and its nucleotide sequence constitute whole or a part of the target chromosomal region, or complementary sequence thereof; and

(d) immobilizing the probe in a microarray.

In an embodiment, the present invention relates to a method of preparing a microarray including a step of immobilizing at least one probe thereon selected from the group consisting of RNA fragment, cDNA fragment, oligomer and genomic DNA fragment. The microarray includes at least two kinds of probes immobilized in a spot, and the probes immobilized in a spot includes a nucleotide selected from the group consisting of whole chromosome, parts of chromosome, and a complementary DNA thereof showing the same phenotype in an abnormality of chromosome number, and the phenotype is a gene amplification, or a gene deletion.

In another embodiment, the present invention provides aDNA chip for detecting chromosome abnormality in the whole human genomic DNA, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragment 1 to 25851 of Table 1, in appendix A hereto, as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.

In addition, the present invention provides a DNA chip for detecting selected from the group consisting of Down's syndrome, Patau syndrome, Edwards syndrome, Turner syndrome, Klinefelter syndrome, ATR-16 (alpha-thalassemia retardation) syndrome, CAT1A (Charcot-Marie-Tooth neuropathy 1A), Cri-du-chat syndrome, Digeorge syndrome, HNPP (Hereditary Neuropathy with liability to pressure palsies), Kallmann syndrome, Miller-Dieker syndrome, Prader-willi syndrome, Rubinstein-taybi syndrome, Smith-magenes syndrome, Steroid-sulfatase gene syndrome, Williams syndrome, Wolf-hirschhorn syndrome, and constitutional diseases checked pre- or post-natally.

The present invention provides a method of detecting chromosome abnormality comprising the steps of:

(a) preparing a microarray for detecting chromosome abnormality;

(b) reacting sample genomic DNA in a sample which is labeled by first detectable labeling material, and the reference DNA labeled by second detectable labeling material in the same mixture ratio, with the probe immobilized on the microarray, and measuring hybridization ratio of the sample genomic DNA or the reference DNA with the probe respectively; and

(c) analyzing chromosome abnormality of the sample genomic DNA on the basis of the hybridization ratio.

In an embodiment, the present invention provides a method of detecting chromosome abnormality comprising the steps of:

(a) selecting a probe including consecutive 20 to 100 bp of genomic DNA fragment, and immobilizing the probe on microarray, wherein the genomic DNA fragment is BAC DNA in Table 1 or BAC DNA in Table 2 as described in the detailed description of the present application, and the probe has a single chromosomal locus, and includes repetitive sequence in the amount of at most 85% of the probe nucleotide;

(b) reacting sample genomic DNA in a sample which is labeled by first detectable labeling material, and the reference DNA labeled by second detectable labeling material in the same mixture ratio, with the probe immobilized on the microarray, and measuring hybridization ratio of the sample genomic DNA or the reference DNA with the probe respectively; and

(c) deciding chromosome abnormality of the sample genomic DNA as follows:

No chromosome abnormality, if the hybridization ratio of the target genomic DNA is the same as that of the reference DNA,

Chromosome amplification, if the hybridization ratio of the target genomic DNA is higher than that of the reference DNA.

Chromosome deletion, if the hybridization ratio of the sample genomic DNA is lower than that of the reference DNA.

In an embodiment, the present invention provides a method of detection abnormality of chromosome number comprising steps of:

(a) immobilizing at least one probe thereon selected from the group consisting of RNA fragment, cDNA fragment, oligomer and genomic DNA fragment,

wherein the microarray includes at least two kinds of probes immobilized in a spot, and the probes immobilized in a spot includes a nucleotide selected from the group consisting of whole chromosome, parts of chromosome, and a complementary DNA thereof showing the same phenotype in an abnormality of chromosome number, and the phenotype is a gene amplification, or a gene deletion.

(b) reacting sample genomic DNA in a sample which is labeled by first detectable labeling material, and the reference DNA labeled by second detectable labeling material in the same mixture ratio, with the probe immobilized on the microarray, and measuring hybridization ratio of the sample genomic DNA or the reference DNA with the probe respectively; and

(c) deciding chromosome abnormality of the sample genomic DNA as follows:

No chromosome abnormality, if the hybridization ratio of the sample genomic DNA is the same as that of the reference DNA is decided to produce no chromosome abnormality,

Chromosome amplification, if the hybridization ratio of the sample genomic DNA is higher than that of the reference DNA.

Chromosome deletion, if the hybridization ratio of the sample genomic DNA is lower than that of the reference DNA.

In an embodiment, the present invention provides a method of detection a disease-specific chromosome abnormality comprising the steps of:

(a) identifying a genomic DNA fragment inserted to each clone which is obtained from organism's genomic library;

(b) immobilizing the entire or a part of genomic DNA fragment identified in step (a) on a microarray;

(b) reacting the sample genomic DNA of patient which is labeled by a first detectable labeling material, and a reference DNA labeled by a second detectable labeling material in the same mixture ratio, with the probe immobilized on the microarray, and measuring hybridization ratio of the sample genomic DNA or the reference DNA with the probe respectively; and

(c) detecting a region and type of a chromosome abnormality of the patient by analyzing the hybridization ratio.

The present invention will be described in more detail.

As used herein, the term, “organism” means plant, insect, animal, or human.

As used herein, the term, “genomic DNA microarray” means “a microarray which the genomic DNA fragment of the organism is immobilized thereon. The genomic DNA microarray can be a genomic DNA fragment which is obtained by separating and amplifying the each clone constituting a genomic library.

As used herein, the term, “clone” means a cell or cell line transformed by a vector including fragments of whole genome of the organism. The vector, cell and cell line are generally used for preparing genomic DNA library. For example, the vector includes BAC (Bacterial Artificial Chromosome) such as pECBAC1 and pBeloBACII, HAC (Human Artificial Chromosome), TAC (Transformation competent Artificial Chromosome), YAC (Yeast Artificial Chromosome) such as pYAC4, Pac (P1-derived Artificial chromosome) such as pCYPAC1, P1 (Phage) such as pAd10sacBII, and cosmid, but not limited thereto. A host can be suitably selected for each vector. The examples of the host include E. coli, yeast, and virus. The genomic library and clone can be prepared according to the general method in the art.

As used herein, the term, “probe” can be one which is immobilized on a microarray and can hybridize the homologous DNA in a sample. The probe can be DNA, RNA, cDNA or mRNA, or oligomer DNA. The probe includes repetitive sequence in the amount of at most 85% of the probe nucleotide, preferably at most 70%, more preferably at most 50%, most preferably at most 40%. The probe is 10 to 350 kb of a genomic DNA, 20 to 300 bp of oligomer, preferably 20 to 100 bp of oligomer, and 100 bp to 10 kbp of cDNA or RNA, but not limited thereto. Preferably, the probe has a single chromosomal locus.

Microarray

The microarray of the present invention is prepared by method comprising a step of immobilizing at least one probe thereon selected from the group consisting of RNA fragment, cDNA fragment, oligomer and genomic DNA fragment. The microarray includes at least two kinds of probes immobilized in a spot, and the probes immobilized in a spot includes a nucleotide selected from the group consisting of whole chromosome, parts of chromosome, and a complementary DNA thereof showing the same phenotype in an abnormality of chromosome number, and the phenotype is a gene amplification, or a gene deletion.

The probe is a genomic DNA fragment, or RNA fragment, cDNA fragment or oligomer derived from the genomic DNA fragment. The probe can be selected suitably for the usage of the microarray. The microarray can be prepared by the general method in the art. For example, the probe is immobilized on a substrate for microarray through physical or chemical binding. The substrate can be any one which is widely used in the art. Preferably, the substrate can be functional group for immobilizing the probe on the surface of the substrate, nitrocellulose, or material being capable of forming three dimensional structure. The examples of substrates include silicone wafer, glass, polycarbonate, membrane, polymer films such as polystyrene, or polyurethane, and porous material.

The probe can be immobilized according to the general immobilization method used in the preparation of the DNA microarray, for examples photolithography, piezoelectric printing, micropippetting method and spotting method.

The probe can be immobilized at the concentration of 2 to 100 pg on a spot of microarray. One kind of probe having a same nucleotide sequence can be immobilized in a spot. Alternatively, at least two kinds of probe having different nucleotide sequences can be immobilized in a spot together. In addition, the number of spot on microarray is at least one fold, preferably 2 to 3 fold. The shape of spot is circular with 50 to 500 um of diameter, and 10 to 500 um of interval between the spots. The size and density of spot can be adjusted suitably depending upon the resolution of the analyzing system for the microarray.

For the microarray of the present invention, micro well plate, for example 96-well plate can be used so that the sample molecule, labeling, hybridization, and washing process can be performed with the automatic machines (for examples, Biomek, and Genetix robot).

Genomic DNA Fragment

The genomic DNA fragment can be obtained from whole chromosome of the organism to produce a fragment having suitable size and nucleotide sequence, obtained from the genome library of the organism, or synthesized chemically.

The size of genomic DNA fragment can be adjusted depending upon the resolution of the analyzing system for microarray. For example, the genomic DNA fragment is in the mean size of 100 to 350 kb. In considering that Micro-deletion of the minimal mutation of chromosome abnormality in whole chromosome is 1 Mb, the BAC chip of the present invention including the genomic DNA with mean size of 100 to 350 kb provides high resolution of analyzing the chromosome abnormality.

The Table 1, and Table 2 show the name, chromosomal location, and the related genetic information of each BAC clone. By using the chromosomal location of the BAC clone, the nucleotide sequence of genomic DNA can be identified on the web site providing the database of human genome sequence for example http://www.ncbi.nlm.nih.gov/BLAST, in particular http://www.ncbi.nlm.nih.gov/BLAST/Blast.cgi?CMD=Web&LAYOUT=TwoWindows &AUTO_FORMAT=Semiauto&ALIGNMENTS=50&ALIGNMENT_VIEW=Pairwise &CLIENT=web&DATABASE=nr&DESCRIPTIONS=100&ENTREZ_QUERY=%28n one %29&EXPECT=10&FILTER=L&FORMAT_OBJECT=Alignment&FORMAT_TYPE=HTML&NCBI_GI=on&PAGE=Nucleotides&PROGRAM=blastn&SERVICE=plain&SET_DEFAULTS.x=34&SET_DEFAULTS.y:=8&SHOW_OVERVIEW=on&END_OF_HTTPGET=Yes&SHOW_LINKOUT=yes&GET_SEOUENCE=yes. In Table 1, the A-1 is referred to chromosome, and A-2 is referred to the chromosomal location.

The genomic DNA fragments obtained from the genomic library are shown in Table 1, and can be used for probes of the genomic DNA microarray. The genomic DNA microarray can includes genomic DNA fragments which are corresponding to the whole genome of the organism to be detected for chromosome abnormality, or a genomic DNA fragments which are corresponding for a gene of interest or specific chromosomal region to be detected for chromosome abnormality. When the chromosome abnormality can be detected for the whole genome, the number of genomic DNA fragment can be calculated by dividing the size of organism genome with the size of genomic DNA fragment. For example, if the genomic DNA microarray is used for detecting chromosome abnormality in whole human genome, the size of human genome 3×109 bp is divided with mean size of 100 to 350 kb of genomic DNA fragment to obtain about 30,000 to 8571 of genomic DNA fragments or clones. As the size of genomic DNA fragment increase, the number of genomic DNA fragment or clone decrease. The genomic DNA fragments of Table 1 include the whole human genome.

In addition, the genomic DNA fragments of Table 2 can be used for probe. The genomic DNA fragments of Table 2 are chromosomal regions showing characteristic abnormality with high frequency that are selected from the whole human genome. The BAC library including 1440 of BAC DNA are deposited on Aug. 6, 2005 to the Korean Collection for Type Culture in Korea Research Institute of Bioscience and Biotechnology, and thus are given as accession number of KCTC 10681 BP. TABLE 2 Name Chromosomal location Chromosomal location No of BAC DNA identified by FISH start end size 1 BAC230_P11 1p36.33 1529227 1629227 100000 2 BAC101_I16 1p36.33 1544102 1644102 100000 3 BAC176_F17 1p36.33 1965497 2072101 106604 4 BAC38_N15 1p36.33 2071926 2157699 85773 5 BAC141_N19 1p36.32 3342971 3443382 100411 6 BAC171_P09 1p36.32 4519322 4603310 83988 7 BAC90_A08 1p36.22 10901796 11050196 148400 8 BAC180_C01 1p36.22 11483863 11588661 104798 9 BAC91_A07 1p36.21 14463027 14559007 95980 10 BAC80_C03 1p36.13 15568474 15753918 185444 11 BAC145_B18 1p36.13 17433404 17530502 97098 12 BAC68_M07 1p36.12 21346731 21390543 43812 13 8AC133_M03 1p36.12 21445582 21545172 99590 14 BAC13_F18 1p36.12 21849691 21936333 86642 15 BAC236_J05 1p36.11 25799868 25886691 86823 16 BAC37_K05 1p36.11-1p35.3 27536304 27732094 195790 17 BAC46_E05 1p35.3 27979812 28065764 85952 18 BAC120_F15 1p35.3 27989288 28065750 76462 19 BAC63_I09 1p35.3 29786955 29876434 89479 20 BAC146_G09 1p35.2 31602874 31685710 82836 21 BAC124_B01 1p35.2 32122405 32230934 108529 22 BAC20_I15 1p35.1 34156770 34286546 129776 23 BAC96_E21 1p34.3 35350185 35456363 106178 24 BAC92_N23 1p34.3 36280093 36388589 108496 25 BAC33_L19 1p34.3 37955994 38065753 109759 26 BAC162_J22 1p34.3-1p34.2 39595361 39679116 83755 27 BAC215_J18 1p34.2 39775792 39897211 121419 28 BAC108_F03 1p34.2 43182933 43268729 85796 29 BAC108_H02 1p34.1 44746375 44848074 101699 30 BAC96_M17 1p33 46133544 46237625 104081 31 BAC24_E20 1p33 47088207 47198549 110342 32 BAC141_H16 1p33 47825865 47921500 95635 33 BAC29_J22 1p32.3 53141519 53247758 106239 34 BAC142_G14 1p32.3-1p32.2 55324477 55424617 100140 35 BAC193_L08 1p32.2 56307529 56402186 94657 36 BAC22_P12 1p32.2 56900186 56982456 82270 37 BAC71_J20 1p32.1 58918422 59022531 104109 38 BAC81_F02 1p31.3 63750835 63875564 124729 39 BAC15_M17 1p31.3 64332444 64429163 96719 40 BAC104_G18 1p31.3 64641455 64741455 100000 41 BAC77_K04 1p31.1 77299984 77465197 165213 42 BAC189_F17 1p31.1 82701695 82779000 77305 43 BAC78_B10 1p22.3 85084501 85204460 119959 44 BAC74_F02 1p22.3 85383840 85492628 108788 45 BAC118_I08 1p22.3 85917769 86011273 93504 46 BAC59_G14 1p22.3 87204295 87316444 112149 47 BAC58_B15 1p22.2 88628011 88720304 92293 48 BAC53_D06 1p22.1 92355122 92456222 101100 49 BAC153_B07 1p22.1 93003468 93079689 76221 50 BAC65_M16 1p21.3 97378301 97457183 78882 51 BAC20_G18 1p21.2 99893823 100009725 115902 52 BAC114_F11 1p21.2 100940682 101041214 100532 53 BAC22_M23 1p21.1 103514919 103639324 124405 54 BAC51_G07 1p13.3 109427279 109546841 119562 55 BAC127_H20 1p13.3 109757320 109851630 94310 56 BAC91_J05 1p13.3 110271674 110383682 112008 57 BAC132_I13 1p13.3 110690967 110796298 105331 58 BAC157_J21 1p13.2 111161469 111262835 101366 59 BAC227_N14 1p13.2 112331213 112421336 90123 60 BAC79_K19 1p13.2 113757204 113845226 88022 61 BAC59_B21 1p13.2 114031312 114140336 109024 62 BAC113_H08 1p13.2 114377591 114451274 73683 63 BAC60_F24 1p13.1 116586168 116695431 109263 64 BAC29_M19 1p12 119519154 119604651 85497 65 BAC123_I23 1q21.1 143124471 143219958 95487 66 BAC78_H12 1q21.1 144772302 144872184 99882 67 BAC1_O10 1q21.2-1q21.3 147975235 148087596 112361 68 BAC85_N11 1q22 153324733 153420512 95779 69 BAC215_N06 1q23.1 153939839 154026899 87060 70 BAC235_K22 1q23.1-1q23.2 156223065 156316653 93588 71 BAC183_F06 1q23.2 157165153 157241636 76483 72 BAC249_I07 1q23.3 157852867 157951479 98612 73 BAC96_I22 1q23.3 160045810 160143154 97344 74 BAC157_C20 1q23.3 161881152 161958986 77834 75 BAC177_L21 1q24.1 163760676 163858802 98126 76 BAC84_E09 1q24.2 167891944 168000214 108270 77 BAC72_N18 1q24.3 169998539 170103444 104905 78 BAC155_J12 1q25.1 171121193 171205926 84733 79 BAC81_C10 1q25.2 174263264 174334501 71237 80 BAC165_M06 1q25.3 181278012 181364471 86459 81 BAC109_M23 1q31.1 183567842 183706519 138677 82 BAC82_F03 1q31.1 185022538 185123541 101003 83 BAC25_H07 1q31.2 189675318 189773791 98473 84 BAC59_M15 1q32.1 198546696 198675552 128856 85 BAC80_G04 1q32.1 200225576 200325648 100072 86 BAC118_L22 1q32.2 206836035 206935481 99446 87 BAC84_O24 1q32.3 208823946 208921789 97843 88 BAC170_F20 1q41 215527062 215620214 93152 89 BAC42_F06 1q42.11 220912852 221021312 108460 90 BAC169_C15 1q42.12 221854174 221940299 86125 91 BAC139_G10 1q42.12 222528984 222625007 96023 92 BAC50_H09 1q42.12 223840274 223945589 105315 93 BAC128_O05 1q42.13 226601318 226716208 114890 94 BAC147_E05 1q42.2 228714708 228801924 87216 95 BAC118_H14 1q42.2 229716839 229873996 157157 96 BAC40_F20 1q43 233676313 233767529 91216 97 BAC97_D21 1q43 234066319 234144573 78254 98 BAC132_D14 1q43 234777122 234889732 112610 99 BAC6_N24 1q43 238506181 238657979 151798 100 BAC37_P24 1q43 238718843 238814667 95824 101 BAC168_C19 1q44 240499661 240601271 101610 102 BAC134_B22 1q44 241086985 241187406 100421 103 BAC92_E04 1q44 242668435 242826516 158081 104 BAC19_D07 2p25.3 2017353 2153020 135667 105 BAC153_L04 2p25.3 2130417 2206225 75808 106 BAC34_P10 2p25.2 5967022 6058231 91209 107 BAC165_O21 2p25.1 10318108 10420429 102321 108 BAC29_C11 2p25.1 10563637 10661950 98313 109 BAC76_D18 2p25.1 10572001 10663835 91834 110 BAC247_B10 2p24.3 12216199 12291035 74836 111 BAC99_G21 2p24.3 15156103 15242636 86533 112 BAC126_O17 2p24.3 16059687 16152219 92532 113 BAC239_O18 2p24.1 19283343 19416770 133427 114 BAC167_M04 2p24.1 20441436 20533992 92556 115 BAC64_M02 2p24.1 23127766 23259344 131578 116 BAC146_F07 2p23.3 24196322 24312610 116288 117 BAC37_E18 2p23.3 26239453 26346959 107506 118 BAC176_M18 2p23.2 28152357 28237203 84846 119 BAC97_N06 2p23.2 29382986 29494136 111150 120 BAC252_B21 2p23.2 29791097 29940728 149631 121 BAC137_N18 2p23.1 31471075 31559877 88802 122 BAC175_J02 2p23.1 31547136 31639069 91933 123 BAC90_P18 2p22.3 35880117 36001593 121476 124 BAC166_F20 2p22.3 36077128 36161827 84699 125 BAC145_H13 2p22.1 40487134 40589110 101976 126 BAC32_A06 2p21 45100050 45213616 113566 127 BAC143_E05 2p21 46141794 46251030 109236 128 BAC143_E05 2p21 46141794 46251030 109236 129 BAC52_F13 2p21 47579480 47691043 111563 130 BAC120_P03 2p16.3 47845212 48002887 157675 131 BAC118_O22 2p16.3 47920517 48020124 99607 132 BAC43_G23 2p16.3-2p16.2 52875863 53027462 151599 133 BAC65_K04 2p16.1 55274201 55360186 85985 134 BAC142_G22 2p16.1 56656320 56746512 90192 135 BAC122_G07 2p16.1 61056471 61156577 100106 136 BAC209_G19 2p14 65279460 65413463 134003 137 BAC15_M23 2p14 65872899 65971038 98139 138 BAC12_G01 2p14 66621241 66738940 117699 139 BAC140_N16 2p14 67904530 67995136 90606 140 BAC10_H13 2p13.3 70532183 70664988 132805 141 BAC145_L06 2p13.2 71897634 71982468 84834 142 BAC83_P03 2p13.2 72809831 72900359 90528 143 BAC165_F20 2p13.2 73335636 73442011 106375 144 BAC92_C01 2p12 76516204 76659322 143118 145 BAC23_H04 2p12 79284953 79287486 2533 146 BAC144_A07 2p12 79710126 79791630 81504 147 BAC69_J21 2p12 82679356 82770285 90929 148 BAC125_H18 2p11.2 84236834 84361221 124387 149 BAC185_D04 2p11.2 84925449 85008840 83391 150 BAC120_P19 2q11.2 96746116 96841468 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19990240 80427 1143 BAC86_N24 18q12.1 23800943 23902381 101438 1144 BAC19_B03 18q12.1 28253813 28342253 88440 1145 BAC171_I13 18q12.2 31336856 31441278 104422 1146 BAC241_H18 18q21.1 45850630 45929489 78859 1147 BAC111_I02 18q21.1 45974589 46073220 98631 1148 BAC1_E24 18q21.1 46382064 46501454 119390 1149 BAC144_H12 18q21.1 46766348 46864168 97820 1150 BAC120_C22 18q21.1 48099636 48208222 108586 1151 BAC251_G19 18q21.2 49958497 50062023 103526 1152 BAC248_E22 18q21.2 50005255 50089139 83884 1153 BAC71_L11 18q21.2-18q21.31 52421762 52566954 145192 1154 BAC1_O22 18q21.31 53894403 53991228 96825 1155 BAC78_M19 18q21.32 54734920 54862666 127746 1156 BAC190_E09 18q21.33 59046186 59143498 97312 1157 BAC93_C13 18q21.33 59143422 59226399 82977 1158 BAC63_E12 18q21.33 59409262 59496927 87665 1159 BAC39_C18 18q21.33-18q22.1 59717050 59828190 111140 1160 BAC96_D20 18q22.1 64375723 64491394 115671 1161 BAC196_P15 18q22.3 67164106 67246946 82840 1162 BAC97_B02 18q22.3 70059067 70164618 105551 1163 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19q12 36700414 36843108 142694 1185 BAC90_H02 19q13.12 40345497 40468196 122699 1186 BAC162_E14 19q13.13 42500153 42612049 111896 1187 BAC162_K04 19q13.2 44526162 44654219 128057 1188 BAC146_F01 19q13.2 45387806 45488625 100819 1189 BAC162_J04 19q13.2 45952164 46028945 76781 1190 BAC249_F13 19q13.2 46383337 46477055 93718 1191 BAC239_N12 19q13.31 48749455 48848106 98651 1192 BAC183_D06 19q13.31 48847871 48996197 148326 1193 BAC78_D10 19q13.31 48847942 48958616 110674 1194 BAC233_C05 19q13.32 50661471 50753092 91621 1195 BAC30_K23 19q13.32 51219159 51308806 89647 1196 BAC168_H24 19q13.33 54081400 54161818 80418 1197 BAC130_J22 19q13.41 55996991 56086613 89622 1198 BAC165_O12 19q13.41 57215236 57306157 90921 1199 BAC53_O15 19q13.42 58885334 59049697 164363 1200 BAC168_E17 19q13.42 60716170 60824234 108064 1201 BAC223_A15 19q13.43 61937176 62037176 100000 1202 BAC48_A12 19q13.43 62753996 62869459 115463 1203 BAC40_E05 20p13 950567 1060691 110124 1204 BAC109_E03 20p13 3557532 3654929 97397 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38200551 125023 1226 BAC43_F22 20q12 38383033 38554426 171393 1227 BAC239_E02 20q12 39551098 39642464 91366 1228 BAC97_K09 20q12 39964163 40041129 76966 1229 BAC21_G16 20q12 40401091 40510999 109908 1230 BAC52_H17 20q12 41478073 41592599 114526 1231 BAC177_F04 20q12 41559912 41663035 103123 1232 BAC75_I24 20q13.12 43269482 43355740 86258 1233 BAC12_K18 20q13.13 47716616 47825988 109372 1234 BAC193_H13 20q13.13 49715263 49817640 102377 1235 BAC72_N10 20q13.2 53356476 53451975 95499 1236 BAC51_F06 20q13.2 53617860 53841898 224038 1237 BAC97_O05 20q13.2 53929620 54032536 102916 1238 BAC63_G09 20q13.32 56793070 56914693 121623 1239 BAC142_K22 20q13.32 58382628 58464614 81986 1240 BAC42_C03 20q13.33 60237784 60340737 102953 1241 BAC90_N02 20q13.33 63316793 63410107 93314 1242 BAC29_L21 21q11.2 14659343 14766232 106889 1243 BAC190_J11 21q11.2 14989525 15073544 84019 1244 BAC183_C22 21q21.1 20059719 20183055 123336 1245 BAC100_H22 21q21.2 23812356 23913099 100743 1246 BAC65_O07 21q21.3 26143952 26259891 115939 1247 BAC249_C23 21q21.3 27101711 27203592 101881 1248 BAC36_D16 21q21.3 29290000 29388816 98816 1249 BAC84_O06 21q22.11 31350858 31449318 98460 1250 BAC11_L10 21q22.11 31828260 31921565 93305 1251 BAC63_J12 21q22.11 31921400 32041535 120135 1252 BAC155_L05 21q22.11 32707790 32832682 124892 1253 BAC203_B21 21q22.11 33491072 33591479 100407 1254 BAC182_I05 21q22.11 33761592 33830417 68825 1255 BAC56_C18 21q22.11 34147688 34327992 180304 1256 BAC82_F19 21q22.11-21q22.12 34571538 34748392 176854 1257 BAC65_N02 21q22.12 34803249 34906451 103202 1258 BAC117_H13 21q22.12 34833743 34963940 130197 1259 BAC166_I08 21q22.12 34868737 34960579 91842 1260 BAC203_M13 21q22.12 35058114 35132553 74439 1261 BAC165_I10 21q22.12 36053804 36155088 101284 1262 BAC8_G15 21q22.13 37269976 37359485 89509 1263 BAC213_C09 21q22.13 38108436 38207891 99455 1264 BAC141_F01 21q22.2 38644900 38741144 96244 1265 BAC42_O16 21q22.2 39024524 39171652 147128 1266 BAC88_N19 21q22.2 40233536 40332751 99215 1267 BAC88_N19 21q22.2 40233536 40332751 99215 1268 BAC109_E20 21q22.3 41447533 41570422 122889 1269 BAC37_M17 21q22.3 42144949 42259302 114353 1270 BAC145_K01 21q22.3 42289089 42380366 91277 1271 BAC46_A15 21q22.3 42795447 42880952 85505 1272 BAC8_N04 21q22.3 43416843 43506866 90023 1273 BAC96_C04 21q22.3 43877962 43987382 109420 1274 BAC1_C02 21q22.3 43963093 44050254 87161 1275 BAC155_O07 21q22.3 44553929 44644142 90213 1276 BAC80_E04 21q22.3 45015415 45125892 110477 1277 BAC136_D13 21q22.3 45031012 45127430 96418 1278 BAC209_K24 21q22.3 45127713 45222279 94566 1279 BAC207_B17 21q22.3 45503537 45611138 107601 1280 BAC88_N11 21q22.3 45782179 45934096 151917 1281 BAC147_A13 21q22.3 46763053 46873853 110800 1282 BAC185_A10 22q11.21 16585502 16703290 117788 1283 BAC173_K08 22q11.21 17035175 17154309 119134 1284 BAC82_N03 22q11.21 17981523 18115068 133545 1285 BAC73_G13 22q11.21 18054142 18133800 79658 1286 BAC45_L11 22q11.21 18114912 18236616 121704 1287 BAC135_D20 22q11.21 18250892 18337061 86169 1288 BAC235_E11 22q11.21 19372279 19502515 130236 1289 BAC122_J17 22q11.21 19501143 19658729 157586 1290 BAC170_F13 22q11.22-22q11.23 21764932 21893837 128905 1291 BAC209_P14 22q11.23 21768683 21855396 86713 1292 BAC193_N18 22q11.23 22663632 22778729 115097 1293 BAC96_M16 22q11.23 23426152 23569727 143575 1294 BAC199_I14 22q11.23 24009545 24110169 100624 1295 BAC40_G01 22q12.1 25065786 25203548 137762 1296 BAC12_F19 22q12.1 26160169 26288390 128221 1297 BAC161_N14 22q12.1 26715479 26846451 130972 1298 BAC143_A19 22q12.1 27639126 27747271 108145 1299 BAC229_K08 22q12.2 27941326 28020526 79200 1300 BAC1_K13 22q12.2 28020430 28154454 134024 1301 BAC191_G18 22q12.2 28157561 28257068 99507 1302 BAC37_J03 22q12.2 28378252 28491078 112826 1303 BAC117_O16 22q12.2 28401441 28491126 89685 1304 BAC219_K02 22q12.2 30000418 30121260 120842 1305 BAC103_G23 22q12.2 30053433 30178199 124766 1306 BAC140_B15 22q12.3 30652122 30741131 89009 1307 BAC196_J04 22q12.3 31510114 31604206 94092 1308 BAC90_G19 22q12.3 32218076 32325756 107680 1309 BAC19_A04 22q12.3 34450431 34562284 111853 1310 BAC19_A04 22q12.3 34450431 34562284 111853 1311 BAC131_H09 22q12.3 34942382 35069724 127342 1312 BAC240_E16 22q12.3 34978590 35078590 100000 1313 BAC25_B14 22q12.3 35220469 35316635 96166 1314 BAC15_I17 22q12.3-22q13.1 35727018 35920037 193019 1315 BAC190_O21 22q13.1 37244771 37336583 91812 1316 BAC161_F18 22q13.1 37343267 37470851 127584 1317 BAC200_M11 22q13.1 37470767 37565068 94301 1318 BAC33_J12 22q13.1 37665513 37766108 100595 1319 BAC180_G12 22q13.1 37777327 37882548 105221 1320 BAC154_K23 22q13.1 37781962 37930897 148935 1321 BAC143_E09 22q13.1 38562566 38648365 85799 1322 BAC59_J18 22q13.2 39272711 39360769 88058 1323 BAC145_D16 22q13.2 39357110 39501404 144294 1324 BAC238_J21 22q13.2 41310641 41426781 116140 1325 BAC122_O04 22q13.2 41549637 41728984 179347 1326 BAC189_F08 22q13.31 42701860 42817073 115213 1327 BAC78_L06 22q13.31 44894709 45052574 157865 1328 BAC131_L06 22q13.31 45208045 45330257 122212 1329 BAC73_C03 22q13.31 46149882 46235766 85884 1330 BAC33_J04 22q13.33 47939426 48070084 130658 1331 BAC248_E20 22q13.33 49066764 49168930 102166 1332 BAC32_O13 Xp22.33 2367225 2472415 105190 1333 BAC153_J20 Xp22.22 9231921 9331921 100000 1334 BAC143_P20 Xp22.22 9657664 9752433 94769 1335 BAC166_K19 Xp22.22 10663707 10748286 84579 1336 BAC72_G18 Xp22.22 12319091 12401604 82513 1337 BAC161_F20 Xp22.22 12914583 13020166 105583 1338 BAC122_M06 Xp22.22 15041048 15127934 86886 1339 BAC16_E18 Xp22.13 17523395 17618824 95429 1340 BAC180_G08 Xp22.13 17595852 17697987 102135 1341 BAC43_L14 Xp22.13 18014360 18109910 95550 1342 BAC230_I10 Xp22.13 18418346 18519739 101393 1343 BAC120_N07 Xp22.11 22568240 22649249 81009 1344 BAC96_B05 Xp22.11 23470896 23562686 91790 1345 BAC89_J08 Xp22.11 23884296 23972217 87921 1346 BAC62_H18 Xp22.11 24047294 24118361 71067 1347 BAC46_K11 Xp22.11-Xp21.3 24330893 24427534 96641 1348 BAC63_K16 Xp21.1 31188097 31274907 86810 1349 BAC118_L05 Xp21.1 31952484 32061404 108920 1350 BAC63_O15 Xp21.1 32228238 32315594 87356 1351 BAC46_M08 Xp21.1 36573217 36660687 87470 1352 BAC117_O07 Xp11.4 37239448 37316488 77040 1353 BAC131_J03 Xp11.4 37277870 37355452 77582 1354 BAC139_J06 Xp11.4 40516388 40597919 81531 1355 BAC26_B20 Xp11.4 40895658 41036563 140905 1356 BAC7_O11 Xp11.3 42812523 42911660 99137 1357 BAC176_A16 Xp11.3-Xp11.23 46479187 46613095 133908 1358 BAC128_N06 Xp11.23 47119509 47209251 89742 1359 BAC122_O17 Xp11.23 47809280 47961298 152018 1360 BAC128_N09 Xp11.23 48157296 48285768 128472 1361 BAC39_M13 Xp11.23-Xp11.22 48754981 48862262 107281 1362 BAC31_P15 Xp11.22 52139259 52258150 118891 1363 BAC39_H16 Xp11.21 53736905 53871606 134701 1364 BAC247_M15 Xp11.21 54018343 54093869 75526 1365 BAC24_I13 Xq11.2 61594055 61731370 137315 1366 BAC141_P21 Xq12 64074633 64164626 89993 1367 BAC59_K08 Xq12 65770669 65879205 108536 1368 BAC23_O07 Xq13.1 66854379 66980784 126405 1369 BAC178_B15 Xq13.1 67201571 67283943 82372 1370 BAC142_O01 Xq13.1 69624480 69723593 99113 1371 BAC182_P03 Xq13.1 70330068 70442678 112610 1372 BAC110_I17 Xq13.2 72536471 72672674 136203 1373 BAC170_L05 Xq21.1 75898755 75986911 88156 1374 BAC179_M02 Xq21.1 76059930 76145025 85095 1375 BAC20_K10 Xq21.1 81102663 81225786 123123 1376 BAC76_H11 Xq21.32 91454180 91583204 129024 1377 BAC211_I16 Xq21.32 91626890 91723415 96525 1378 BAC6_B17 Xq21.33 94907491 95018810 111319 1379 BAC57_E05 Xq22.1 99271404 99396307 124903 1380 BAC209_I17 Xq22.1 99773224 99870655 97431 1381 BAC43_D09 Xq22.2 101760102 101854994 94892 1382 BAC141_P03 Xq22.2 102384569 102488663 104094 1383 BAC56_M03 Xq22.3 105782457 105878590 96133 1384 BAC200_I13 Xq22.3 106430413 106532237 101824 1385 BAC55_G15 Xq23 108440983 108527568 86585 1386 BAC58_E08 Xq23 109151622 109281412 129790 1387 BAC41_C23 Xq23 110655724 110747997 92273 1388 BAC62_N08 Xq23 113650688 113789455 138767 1389 BAC103_A22 Xq13.1 113730419 113790321 59902 1390 BAC165_P14 Xq23 114260198 114320905 60707 1391 BAC51_H24 Xq24 118202334 118300323 97989 1392 BAC85_A21 Xq25 121792442 121879410 86968 1393 BAC176_E20 Xq25 122759251 122835121 75870 1394 BAC247_N09 Xq25 126960660 127038666 78006 1395 BAC31_O21 Xq26.2 130517423 130622376 104953 1396 BAC69_N21 Xq26.2 131539749 131676083 136334 1397 BAC41_L18 Xq26.2 132210618 132366873 156255 1398 BAC36_B11 Xq26.3 132584762 132668298 83536 1399 BAC247_B11 Xq26.3 133966096 134066393 100297 1400 BAC247_B11 Xq26.3 133966096 134066393 100297 1401 BAC21_J11 Xq26.3 134290254 134389273 99019 1402 BAC122_G10 Xq26.3 134635371 134716821 81450 1403 BAC170_L14 Xq26.3 135259977 135369152 109175 1404 BAC214_M20 Xq27.1 136942761 137030129 87368 1405 BAC14_M14 Xq27.1 138763382 138844208 80826 1406 BAC233_N08 Xq27.2 139007118 139089725 82607 1407 BAC77_O23 Xq27.2 139194173 139297048 102875 1408 BAC29_D20 Xq27.2 139914549 140061750 147201 1409 BAC61_I07 Xq27.3 142324669 142420377 95708 1410 BAC166_J20 Xq27.3 142911155 142996763 85608 1411 BAC55_F19 Xq28 148732366 148825233 92867 1412 BAC139_D06 Xq28 149378105 149484441 106336 1413 BAC139_P13 Xq28 150490992 150588703 97711 1414 BAC139_P13 Xq28 150490992 150588703 97711 1415 BAC43_D10 Xq28 150786623 150954986 168363 1416 BAC27_B24 Xq28 151283476 151429154 145678 1417 BAC123_P03 Xq28 151447703 151577035 129332 1418 BAC170_P07 Xq28 151858476 151941545 83069 1419 BAC171_F11 Xq28 152144739 152273778 129039 1420 BAC31_I13 Xq28 152329278 152475058 145780 1421 BAC90_L23 Xq28 152581837 152669189 87352 1422 BAC154_L24 Xq28 153124985 153224985 100000 1423 BAC202_C09 Yp11.31 2491867 2571557 79690 1424 BAC158_N08 Yp11.2 6836586 6898386 61800 1425 BAC52_L18 Yp11.2 8869376 8974494 105118 1426 BAC10_I08 Yp11.2 9166337 9295674 129337 1427 BAC58_H14 Yq11.221 15973469 16055735 82266 1428 BAC94_F15 Yq11.221 16086505 16186505 100000 1429 BAC36_J10 Yq11.221 17732213 17821055 88842 1430 BAC126_D02 Yq11.221 19141327 19298090 156763 1431 BAC220_P01 Yq11.222 19768053 19854639 86586 1432 BAC80_J09 Yq11.222 21539003 21673125 134122 1433 BAC60_N12 Yq11.223 21949617 22050893 101276 1434 BAC37_G04 Yq11.223 22257679 22340650 82971 1435 BAC147_N13 Yq11.223 22338341 22486942 148601 1436 BAC132_A12 Yq11.223 22866346 22914575 48229 1437 BAC170_J12 Yq11.223 24637082 24720962 83880 1438 BAC41_I24 Yq11.23 25990166 26129583 139417 1439 BAC194_K10 Yq11.23 26527037 26658969 131932 1440 BAC154_P04 Yq12 50112233 50203629 91396

Genome Library

The genomic library can be prepared according to the conventional method. For example, human BAC DNA can be obtained by performing the process including preparation of BAC library, sequence analysis of a part of BAC DNA inserted into BAC clone, analysis of chromosomal location of BAC DNA by using the homology analysis the analyzed nucleotide sequence with identified human genome sequence, analysis of whole nucleotide sequence, reconfirmation of chromosomal location of BAC DNA by using FISH ((Fluorescent In Situ Hybridization), and the recovery of BAC DNA from the BAC clone. The process of the obtaining the BAC DNA will be explained in more detail.

(1) Preparation of Genomic Library

The human genome is separated, and cleavaged with treatment of restriction enzyme (for examples HindIII, and BamHI) and/or sonication, and performed by Pulse Field Gel Electrophoresis to produce DNA fragment having the mean size of 100 to 350 Kb. The DNA fragment is introduced into the BAC, PAC, P1, YAC or cosmid vector which is treated with the same restriction enzyme, and then transformed to host cell, for example E. coli. The cell line including the human genomic DNA fragment is referred to as a clone. The present inventor made 96,768 clones in total according to the above method.

(2) Identification of Location and Whole Nucleotide Sequence of the Genomic DNA Fragment Inserted into the Clone

The genomic DNA fragment in each clone is performed by homology analysis with the known human genome sequence. The databases used for the homology analysis are NCBI, UC Santa Cruz, and Sanger Institute.

For homology analysis, the end-sequencing of both ends (for example, 100 to 700 bp nucleotides) of the inserted genomic DNA fragment is performed by sequencing with primers specific to the vector. The end-sequencing can be easily performed, because the nucleotide sequence and restriction map of vector are identified. The homology analysis is performed by inputting the nucleotide sequence of both ends into the database of the human genome sequence, and the consistent region is confirmed to chromosomal location and entire nucleotide sequencing of the genomic DNA fragment are confirmed.

(3) Reconfirmation of Chromosomal Location of Genomic DNA Fragment by Using FISH

The reconfirmation step can be omitted, but performed for confirming the location on genome of the genomic DNA fragment.

The genomic DNA fragment is used as a probe, labeled by a fluorescent material, and then reacted with human chromosome in the metaphase of cell division. The chromosomal location of the genomic DNA fragment is reconfirmed by detecting the fluorescent signal.

(4) Recovery of the Genomic DNA Fragment from the Clone

The genomic DNA fragment is recovered from each clone according to the conventional method, or by using the commercial recovery kit

According to the above steps, the genomic DNA fragment inserted into the each clone is identified. The characteristics of genomic DNA fragment such as chromosomal location, nucleotide sequence, function, related gene or disease information are collected, and the genomic DNA fragment can be selected for the suitable use of DNA chip. In particular, when a DNA chip for diagnosing a specific disease, each genomic DNA fragment corresponding to chromosome abnormality related to the occurrence and the prognosis of disease can be easily recovered from each clone.

In an embodiment of the present invention, genomic DNA fragments of the BAC library of Korean people are shown in Table 1.

Preparation of Genomic DNA Microarray for Detecting Chromosome Abnormality

The present invention relates to a method of preparing DNA microarray for detecting chromosome abnormality contains the steps of:

(a) identifying genomic DNA fragment inserted to each clone which is obtained from organism's genomic library;

(b) selecting target chromosomal region to be detected for chromosome abnormality;

(c) selecting from genomic DNA fragments identified in step (a) at least a genomic DNA fragment as a probe for detecting the sample chromosomal region, and

(d) immobilizing the probe in a microarray.

In step (a), the genomic DNA fragment can be at least one selected from the group consisting of genomic DNA fragments in Table 1, and preferably can be selected depending on the chromosomal region to be detected for chromosome abnormality, and diseases.

In step (b), the chromosome abnormality is selected from the group consisting of mutation of nucleotide sequence, amplification in the number of the chromosome, deletion in the number of chromosome, chromosome inversion, and chromosome translocation, preferably the abnormality of chromosome number. The examples of the diseases associated with the abnormality of chromosome number are Down's syndrome, Patau syndrome, Edwards syndrome, Turner syndrome, Klinefelter syndrome, ATR-16 (alpha-thalassemia retardation-16), CMT1A (Charcot-Marie-Tooth neuropathy 1A), Cri-du-chat syndrome, Digeorge syndrome, HNPP disease (Hereditary Neuropathy with Liability to Pressure palsies), Kallmann syndrome Miller-Dieker syndrome, Prader-willi syndrome, Rubinstein-taybi syndrome, Smith-magenes syndrome, Steroid-sulfatase gene syndrome, Williams syndrome and Wolf-hirschhorn syndrome.

In step (b), the target chromosome region is a region showing disease-specific mutation, for examples, a chromosome region showing the amplification or deletion of chromosome number, which can be easily selected by a person of ordinary skill in the art those who the present invention pertains to.

In step (c), the genomic DNA fragments for detecting the chromosome region are selected. The genomic DNA fragments are suitably selected by analyzing the chromosome location, nucleotide sequence, association with disease, and function. Preferably, the genomic DNA fragment contains repetitive sequence at the amount of at most 85% of nucleotide sequence, and has single locus on chromosome. The probe can be the whole or parts of target chromosome, or homologous sequences thereof.

In step (d), the selected probe can be immobilized on a substrate for microarray according to the conventional method. For example, all the DNA of genomic DNA library vector

DNA can be used for probe, and the DNA is partially cleaved with sonication and then immobilized on the substrate. The process is general method for preparing the genomic DNA microarray, and thus can be easily performed by a person of ordinary skill in the art which the present invention pertains to.

As examples, the present invention provides a microarray or DNA chip for detecting each disease.

(1) Down's Syndrome

Depending on the karyotype, Down's syndrome is classified into trisomy21, mosaicism, and translocation, which occur with frequencies of 93%, 2˜3%, and 3˜5%, respectively. The present invention relates to diagnosing the karyotype of Trisomy 21.

DNA chip for detecting Down's syndrome includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 34 of Table 3, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 3 Chromosomal location Chromosomal location in Human genome BAC DNA No. identified by FISH Start point End point size BAC8_G15 1 21 37269976 37359485 89509 BAC11_L10 2 21q22.11 31828260 31921565 93305 BAC29_L21 3 21q11.2 14659343 14766232 106889 BAC36_D16 4 21q21.3 29290000 29388816 98816 BAC37_M17 5 21q22.3 42144949 42259302 114353 BAC42_O16 6 21q22.2 39024524 39171652 147128 BAC56_C18 7 21q22.11 34147688 34327992 180304 BAC65_N02 8 21q22.12 34803249 34906451 103202 BAC82_F19 9 21q22.11 34571538 34748392 176854 BAC88_N11 10 21q22.3 45782179 45934096 151917 BAC88_N19 11 21q22.2 40233536 40332751 99215 BAC96_C04 12 21q22.3 43877962 43987382 109420 BAC109_E20 13 21q22.3 41447534 41570422 122888 BAC117_H13 14 21q22.12 34833747 34963940 130193 BAC141_F01 15 21q22.2 38644900 38741144 96244 BAC145_K01 16 21q22.3 42289089 42380366 91277 BAC147_A13 17 21q22.3 46763053 46873853 110800 BAC182_I05 18 21q22.11 33761721 33830417 68696 BAC190_J11 19 21q11.2 14989525 15073483 83958 BAC203_B21 20 21q22.11 33491072 33591479 100407 BAC203_M13 21 21q22.12 35058114 35132553 74439 BAC207_B17 22 21q22.3 45503537 45611138 107601 BAC213_C09 23 21q22.13 38108433 38207914 99481 BAC1_C02 24 21q22.3 43963093 44050254 87161 BAC84_O06 25 21q22.11 31350858 31449318 98460 BAC88_N19 26 21q22.2 40233536 40332751 99215 BAC100_H22 27 21q21.2 23812356 23913099 100743 BAC155_L05 28 21q22.11 32707790 32832682 124892 BAC165_I10 29 21q22.12 36053804 36155088 101284 BAC166_I08 30 21q22.12 34868737 34960579 91842 BAC183_C22 31 21q21.1 20059719 20183055 123336 BAC46_A15 32 21q22.3 42795447 42880952 85505 BAC65_O07 33 21q21.3 26143952 26259891 115939 BAC136_D13 34 21q22.3 45031012 45127373 96361

(2) Patau Syndrome

Patau syndrome can be diagnosed for Karyotype trisomy 13. A DNA chip for detecting Patau syndrome includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 34 of Table 4, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 4 Chromosomal location Chromosomal location in Human genome BAC DNA No. identified by FISH Start point End point size BAC27_O11 1 13q14.3 48961232 49073011 111779 BAC123_J22 2 13q34 108999812 109091630 91818 BAC145_C09 3 13q22.3 76266771 76342289 75518 BAC155_B10 4 13q33.1 101157413 101252806 95393 BAC157_J18 5 13q13.1 30498508 30608121 109613 BAC199_L02 6 13q12.11 18433040 18557718 124678 BAC232_G07 7 13q34 111934948 112008920 73972 BAC235_D20 8 13q14.2 48290038 48404451 114413 BAC29_D09 9 13q13.2 32350284 32450376 100092 BAC29_K13 10 13q31.2 85975636 86083353 107717 BAC60_F12 11 13q22.2 73657363 73803146 145783 BAC63_I22 12 13q21.2 57707871 57835668 127797 BAC73_O17 13 13q32.3 99162365 99247785 85420 BAC77_M02 14 13q12.11 20501827 20604163 102336 BAC80_F19 15 13q14.12 43108705 43282650 173945 BAC84_E11 16 13q32.1 94659834 94770009 110175 BAC88_K22 17 13q13.3 37873884 37963755 89871 BAC91_O18 18 13q12.13 24894344 25001216 106872 BAC92_J05 19 13q14.3 48798348 48916233 117885 BAC96_A02 20 13q34 112109608 112214195 104587 BAC96_N17 21 13q21.33 70389090 70480502 91412 BAC97_A19 22 13q31.1 77564263 77668779 104516 BAC143_B05 23 13q32.2 96859138 96937794 78656 BAC147_I15 24 13q14.11 42693523 42796905 103382 BAC154_E21 25 13q22.1 72656512 72726261 69749 BAC166_A03 26 13q32.1 92965119 93055136 90017 BAC168_M20 27 13q21.32 64995345 65079169 83824 BAC171_B19 28 13q12.12 22441596 22517054 75458 BAC175_N19 29 13q14.3 52838057 52940262 102205 BAC193_H21 30 13q33.3 104755638 104837582 81944 BAC233_L22 31 13q33.1 101437725 101517500 79775 BAC29_C16 32 13q14.3 51114561 51221600 107039 BAC66_B10 33 13q14.2 48406430 48528622 122192 BAC122_P16 34 13q14.2 45081284 45171613 90329

(3) Edwards Syndrome

Edwards syndrome can be diagnosed for Karyotype trisomy 18. A DNA chip for detecting Edwards syndrome includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 28 of Table 5, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 5 Chromosomal location Chromosomal location in Human genome BAC DNA No. identified by FISH Start point End point size BAC19_B03 1 18q12.1 28253813 28342253 88440 BAC43_M02 2 18p11.32 1480552 1589598 109046 BAC51_E18 3 18q23 71505225 71607424 102199 BAC63_E12 4 18q21.33 59409262 59496927 87665 BAC93_C13 5 18q21.33 59143422 59226399 82977 BAC106_H08 6 18p11.31 6097510 6188241 90731 BAC144_H12 7 18q21.1 46766348 46864168 97820 BAC167_F11 8 18p11.22 10702382 10800044 97662 BAC190_E09 9 18q21.33 59046171 59143498 97327 BAC210_D05 10 18p11.21 13026802 13116696 89894 BAC241_H18 11 18q21.1 45850630 45929489 78859 BAC251_G19 12 18q21.2 49958497 50062023 103526 BAC1_E24 13 18q21.1 46382064 46501454 119390 BAC1_O22 14 18q21.31 53894403 53991228 96825 BAC30_E07 15 18p11.22 9880416 9984699 104283 BAC34_E05 16 18p11.23 7496917 7595313 98396 BAC39_C18 17 18q21.33 59717050 59828190 111140 BAC71_L11 18 18q21.2 52421762 52566954 145192 BAC72_K17 19 18p11.32 1832320 1937191 104871 BAC78_M19 20 18q21.32 54734920 54862666 127746 BAC86_A18 21 18p11.21 12912296 13026904 114608 BAC86_N24 22 18q12.1 23800943 23902381 101438 BAC96_D20 23 18q22.1 64375723 64491394 115671 BAC131_F03 24 18q11.2 19909813 19990240 80427 BAC171_I13 25 18q12.2 31336856 31441278 104422 BAC191_N20 26 18p11.31 4325614 4399606 73992 BAC196_P15 27 18q22.3 67164106 67246946 82840 BAC97_B02 28 18q22.3 70059067 70164618 105551

(4) Turner Syndrome

Turner syndrome can be diagnosed for Karyotype 45, XO. A DNA chip for detecting Turner syndrome includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 75 of Table 6, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 6 Chromosomal location Chromosomal location in Human genome BAC DNA No. identified by FISH Start point End point size BAC14_M14 1 Xq27.1 138763382 138844208 80826 BAC23_O07 2 Xq13.1 66854379 66980791 126412 BAC27_B24 3 Xq28 151283476 151429154 145678 BAC29_D20 4 Xq27.2 139914549 140061750 147201 BAC31_I13 5 Xq28 152329278 152475058 145780 BAC32_O13 6 Xp22.33 2367225 2472415 105190 BAC39_H16 7 Xp11.21 53736905 53871606 134701 BAC39_M13 8 Xp11.23 48754981 48862262 107281 BAC41_L18 9 Xq26.2 132210618 132366873 156255 BAC43_L14 10 Xp22.13 18014360 18109910 95550 BAC51_H24 11 Xq24 118202334 118300323 97989 BAC55_F19 12 Xq28 148732366 148825233 92867 BAC57_E05 13 Xq22.1 99271404 99396307 124903 BAC58_E08 14 Xq23 109151622 109281412 129790 BAC59_K08 15 Xq12 65770669 65879205 108536 BAC62_N08 16 Xq23 113650688 113789455 138767 BAC72_G18 17 Xp22.22 12319091 12401604 82513 BAC85_A21 18 Xq25 121792442 121879410 86968 BAC89_J08 19 Xp22.11 23884296 23972217 87921 BAC90_L23 20 Xq28 152581837 152669189 87352 BAC96_B05 21 Xp22.11 23470896 23562686 91790 BAC103_A22 22 Xq13.1 113730419 113790321 59902 BAC117_O07 23 Xp11.4 37239463 37316488 77025 BAC118_L05 24 Xp21.1 31952492 32061404 108912 BAC122_M06 25 Xp22.22 15041048 15127865 86817 BAC123_P03 26 Xq28 151447703 151577032 129329 BAC247_B11 27 Xq26.3 133966096 134066393 100297 BAC154_P04 28 Xq28 153518069 153609465 91396 BAC166_K19 29 Xp22.22 10663707 10748286 84579 BAC170_L05 30 Xq21.1 75898755 75986911 88156 BAC170_L14 31 Xq26.3 135259977 135369152 109175 BAC170_P07 32 Xq28 151858476 151941545 83069 BAC176_A16 33 Xp11.23 46479187 46613095 133908 BAC182_P03 34 Xq13.1 70330182 70442678 112496 BAC211_I16 35 Xq21.32 91626890 91723415 96525 BAC230_I10 36 Xp22.13 18418398 18519739 101341 BAC233_N08 37 Xq27.2 139007118 139089715 82597 BAC247_B11 38 Xq26.3 133966096 134066393 100297 8AC247_M15 39 Xp11.21 54018343 54093883 75540 BAC6_B17 40 Xq21.33 94907491 95018810 111319 BAC20_K10 41 Xq21.1 81102663 81225786 123123 BAC24_I13 42 Xq11.2 61594055 61731370 137315 BAC31_O21 43 Xq26.2 130517423 130622376 104953 BAC31_P15 44 Xp11.22 52139259 52258150 118891 BAC36_B11 45 Xq26.3 132584762 132668298 83536 BAC41_C23 46 Xq23 110655724 110747997 92273 BAC46_K11 47 Xp22.11 24330893 24427534 96641 BAC56_M03 48 Xq22.3 105782457 105878590 96133 BAC61_I07 49 Xq27.3 142324669 142420377 95708 BAC62_H18 50 Xp22.11 24047294 24118361 71067 BAC63_K16 51 Xp21.1 31188097 31274907 86810 BAC63_O15 52 Xp21.1 32228237 32315594 87357 BAC69_N21 53 Xq26.2 131539749 131676083 136334 BAC110_I17 54 Xq13.2 72536471 72672678 136207 BAC120_N07 56 Xp22.11 22568306 22649249 80943 BAC122_G10 57 Xq26.3 134635394 134716821 81427 BAC128_N09 58 Xp11.23 48157296 48285785 128489 BAC131_J03 59 Xp11.4 37277870 37355452 77582 BAC139_D0 60 Xq28 149378105 149484441 106336 BAC142_O01 61 Xq13.1 69624480 69723593 99113 BAC143_P20 62 Xp22.22 9657664 9752433 94769 BAC161_F20 63 Xp22.22 12914583 13020166 105583 BAC165_P14 64 Xq23 114260198 114320905 60707 BAC166_J20 65 Xq27.3 142911155 142996763 85608 BAC176_E20 66 Xq25 122759251 122835121 75870 BAC178_B15 67 Xq13.1 67201571 67283943 82372 BAC179_M02 68 Xq21.1 76059930 76145025 85095 BAC180_G08 69 Xp22.13 17595852 17697987 102135 BAC200_I13 70 Xq22.3 106430413 106532237 101824 BAC247_N09 71 Xq25 126960592 127038666 78074 BAC122_O17 72 Xp11.23 47809333 47961298 151965 BAC139_J06 73 Xp11.4 40516388 40597919 81531 BAC141_P21 74 Xq12 64074633 64164626 89993 BAC128_N06 75 Xp11.23 47119510 47209251 89741

(5) Klinefelter Syndrome

Klinefelter syndrome can be diagnosed for Karyotype XXY. A DNA chip for detecting Klinefelter syndrome includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 10 of Table 714, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 7 Chromosomal location Chromosomal location in Human genome BAC DNA No. identified by FISH Start point End point size BAC10_I08 1 Yp11.2 9166337 9295674 129337 BAC52_L18 2 Yp11.2 8869376 8974494 105118 BAC126_D02 3 Yq11.221 19141327 19298090 156763 BAC147_N13 4 Yq11.223 22338341 22486942 148601 BAC170_J12 5 Yq11.223 24637082 24720962 83880 BAC194_K10 6 Yq11.23 26527037 26658969 131932 BAC37_G04 7 Yq11.223 22257679 22340650 82971 BAC41_I24 8 Yq11.23 25990166 26129583 139417 BAC202_C09 9 Yp11.31 2491867 2571557 79690 BAC220_P01 10 Yq11.222 19768073 19854639 86566

(6) ATR-16 (Alpha-Thalassemia Retardation-16) Syndrome

ATR-16 syndrome can be diagnosed for Karyotype deletion 16p13.3. A DNA chip for detecting ATR-16 syndrome includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 141 of Table 8, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 8 Chromosomal location Chromosomal location in Human genome BAC DNA No. identified by FISH Start point End point size BAC142_G12 1 16p13.3 516853 617469 100616 BAC142_H12 2 16p13.3 516853 617469 100616 BAC250_L07 3 16p13.3 605415 704070 98655 BAC208_A15 4 16p13.3 720641 804644 84003 BAC249_C21 5 16p13.3 734807 812203 77396 BAC230_J12 6 16p13.3 734842 845667 110825 BAC239_F18 7 16p13.3 834107 906859 72752 BAC208_D07 8 16p13.3 863029 954010 90981 BAC61_H17 9 16p13.3 979429 1055483 76054 BAC35_O10 10 16p13.3 1137200 1256188 118988 BAC78_M22 11 16p13.3 1256110 1355806 99696 BAC68_D12 12 16p13.3 1409355 1501907 92552 BAC109_L07 13 16p13.3 1424231 1540754 116523 BAC8_E11 14 16p13.3 1424249 1525919 101670 BAC248_B09 15 16p13.3 1540615 1646306 105691 BAC175_F10 16 16p13.3 1561044 1690272 129228 BAC247_K17 17 16p13.3 1561065 1679951 118886 BAC205_E14 18 16p13.3 1561358 1660710 99352 BAC247_B19 19 16p13.3 1561392 1673861 112469 BAC30_J11 20 16p13.3 1563688 1646307 82619 BAC204_J01 21 16p13.3 1563745 1693582 129837 BAC160_N03 22 16p13.3 1563753 1680019 116266 BAC43_H21 23 16p13.3 1594978 1673856 78878 BAC60_D04 24 16p13.3 1646223 1750238 104015 BAC101_E17 25 16p13.3 1646223 1801163 154940 BAC26_C21 26 16p13.3 1660633 1801085 140452 BAC161_M07 27 16p13.3 1693519 1820649 127130 BAC208_N11 28 16p13.3 1750132 1831984 81852 BAC32_K07 29 16p13.3 1840125 1953739 113614 BAC133_O06 30 16p13.3 1848661 1928752 80091 BAC124_D13 31 16p13.3 1883046 1970703 87657 BAC252_I22 32 16p13.3 2066703 2157935 91232 BAC40_G22 33 16p13.3 2066719 2152652 85933 BAC53_J01 34 16p13.3 2076740 2196453 119713 BAC21_B08 35 16p13.3 2076741 2156740 79999 BAC116_P01 36 16p13.3 2156572 2269699 113127 BAC184_B18 37 16p13.3 2196281 2311075 114794 BAC221_H21 38 16p13.3 2260244 2352925 92681 BAC144_E21 39 16p13.3 2269617 2357113 87496 BAC124_A07 40 16p13.3 2270740 2352937 82197 BAC153_B21 41 16p13.3 2328215 2410350 82135 BAC71_B14 42 16p13.3 2374582 2496938 122356 BAC236_I05 43 16p13.3 2400543 2491319 90776 BAC153_A19 44 16p13.3 2405886 2513847 107961 BAC140_F05 45 16p13.3 2496850 2685986 189136 BAC150_A04 46 16p13.3 2858237 2947506 89269 BAC40_D16 47 16p13.3 2931257 3032329 101072 BAC67_A23 48 16p13.3 2936919 3022730 85811 BAC109_H14 49 16p13.3 2972416 2975331 2915 BAC188_G04 50 16p13.3 3022629 3105478 82849 BAC155_O09 51 16p13.3 3023051 3182151 159100 BAC144_H13 52 16p13.3 3032234 3148709 116475 BAC158_C07 53 16p13.3 3032240 3105415 73175 BAC59_B08 54 16p13.3 3119948 3203303 83355 BAC84_C17 55 16p13.3 3178597 3261330 82733 BAC177_J02 56 16p13.3 3179971 3281431 101460 BAC193_J09 57 16p13.3 3196566 3283228 86662 BAC136_D19 58 16p13.3 3202961 3301749 98788 BAC60_M03 59 16p13.3 3283122 3376833 93711 BAC49_J01 60 16p13.3 3291540 3426981 135441 BAC23_K05 61 16p13.3 3348066 3454552 106486 BAC102_D21 62 16p13.3 3496130 3589157 93027 BAC24_F07 63 16p13.3 3533952 3635083 101131 BAC178_J13 64 16p13.3 3546307 3652872 106565 BAC65_A23 65 16p13.3 3558897 3676918 118021 BAC171_C18 66 16p13.3 3588928 3676900 87972 BAC19_P16 67 16p13.3 3617142 3721871 104729 BAC8_E02 69 16p13.3 3676801 3808206 131405 BAC176_N19 70 16p13.3 3676829 3777606 100777 BAC175_E01 71 16p13.3 3721790 3808222 86432 BAC243_O03 72 16p13.3 3764111 3900077 135966 BAC77_O20 73 16p13.3 3764182 3869131 104949 BAC33_C23 74 16p13.3 3799426 3925947 126521 BAC33_F18 75 16p13.3 3802918 3900073 97155 BAC19_O18 76 16p13.3 3966246 4073662 107416 BAC65_O23 77 16p13.3 3970031 4109399 139368 BAC229_B09 78 16p13.3 4003896 4170949 167053 BAC151_N12 79 16p13.3 4218427 4321997 103570 BAC153_I13 80 16p13.3 4218497 4321935 103438 BAC72_C06 81 16p13.3 4220542 4330838 110296 BAC45_N08 82 16p13.3 4266234 4362182 95948 BAC168_G05 83 16p13.3 4362069 4480722 118653 BAC42_O01 84 16p13.3 4396737 4495151 98414 BAC156_J23 85 16p13.3 4425040 4567524 142484 BAC234_H14 86 16p13.3 4445317 4533510 88193 BAC235_L13 87 16p13.3 4480585 4567481 86896 BAC10_M16 88 16p13.3 4508020 4607666 99646 BAC211_B22 89 16p13.3 4508293 4627920 119627 BAC210_A20 90 16p13.3 4533344 4621828 88484 BAC196_B08 91 16p13.3 4533365 4627937 94572 BAC224_L21 92 16p13.3 4586681 4730252 143571 BAC134_C23 93 16p13.3 4607574 4752288 144714 BAC119_O20 94 16p13.3 4621969 4714235 92266 BAC140_K07 95 16p13.3 4621997 4733318 111321 BAC142_C21 96 16p13.3 4621999 4733320 111321 BAC167_N23 97 16p13.3 4663676 4805399 141723 BAC55_A12 98 16p13.3 4677472 4752292 74820 BAC44_A02 99 16p13.3 4714152 4839582 125430 BAC101_M09 100 16p13.3 4775516 4872170 96654 BAC198_G05 101 16p13.3 4819843 4916448 96605 BAC109_N12 102 16p13.3 4907696 5003470 95774 BAC170_K10 103 16p13.3 4911373 5005974 94601 BAC226_C04 104 16p13.3 4951023 5036890 85867 BAC2_E10 105 16p13.3 4951031 5036957 85926 BAC120_L14 106 16p13.3 4962603 5051450 88847 BAC218_E19 107 16p13.3 4980243 5082645 102402 BAC51_I09 108 16p13.3 5012543 5120158 107615 BAC2_E13 109 16p13.3 5044334 5192459 148125 BAC190_H14 110 16p13.3 5068428 5209986 141558 BAC171_K23 111 16p13.3 5090122 5207172 117050 BAC244_M04 112 16p13.3 5101386 5193865 92479 BAC36_C15 113 16p13.3 5196878 5329816 132938 BAC24_D20 114 16p13.3 5391862 5556472 164610 BAC19_E20 115 16p13.3 5465141 5543370 78229 BAC14_H19 116 16p13.3 5555371 5699321 143950 BAC114_K10 117 16p13.3 5556391 5631850 75459 BAC184_G18 118 16p13.3 5566359 5668195 101836 BAC64_C21 119 16p13.3 5613773 5714264 100491 BAC234_M19 120 16p13.3 5631770 5714201 82431 BAC96_I19 121 16p13.3 5699219 5790183 90964 BAC90_K16 122 16p13.3 5753259 5875363 122104 BAC58_J20 123 16p13.3 5768424 5894466 126042 BAC31_C20 124 16p13.3 5769964 5864724 94760 BAC120_O17 125 16p13.3 5928274 6026041 97767 BAC208_M03 126 16p13.3 5971951 6086197 114246 BAC144_L17 127 16p13.3 6002063 6086183 84120 BAC59_H17 128 16p13.3 6061952 6182471 120519 BAC177_H05 129 16p13.3 6151410 6254645 103235 BAC145_J04 130 16p13.3 6174552 6272687 98135 BAC58_M10 131 16p13.3-16p13.2 6298637 6409056 110419 BAC136_F13 132 16p13.3-16p13.2 6318127 6409104 90977 BAC97_A23 133 16p13.3-16p13.2 6388512 6464944 76432 BAC147_C23 134 16p13.2 6458270 6533019 74749 BAC9_J02 135 16p13.2 6560276 6737905 177629 BAC100_H02 136 16p13.2 6631478 6759323 127845 BAC81_M09 137 16p13.2 6833738 6961166 127428 BAC18_P05 138 16p13.2 6854156 6965698 111542 BAC31_G11 139 16p13.2 6856529 6869084 12555 BAC105_C09 140 16p13.2 6868931 6977422 108491 BAC20_H18 141 16p13.2 6890490 6970337 79847

(7) CMT1A (Charcot-Marie-Tooth Neuropathy 1A)

CMT1A syndrome can be diagnosed for Karyotype duplication 17p12 or segmental trisomy. A DNA chip for detecting CMT1A syndrome includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 235 of Table 9, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 9 Chromosomal location Chromosomal location in Human genome BAC DNA No. identified by FISH Start point End point size BAC88_C04 1 17p12 11612545 11736590 124045 BAC102_K14 2 17p12 11660452 11769301 108849 BAC14_K07 3 17p12 11736490 11856270 119780 BAC140_D17 4 17p12 11822406 11948686 126280 BAC83_N02 5 17p12 11825171 11937915 112744 BAC242_M01 6 17p12 11841526 11926614 85088 BAC22_A20 7 17p12 11856171 11948680 92509 BAC32_E15 8 17p12 11919713 12005808 86095 BAC80_D06 9 17p12 12005708 12096400 90692 BAC244_J05 10 17p12 12006228 12111185 104957 BAC70_M12 11 17p12 12082452 12186139 103687 BAC148_O20 12 17p12 12113892 12209981 96089 BAC51_B20 13 17p12 12127085 12218074 90989 BAC233_L11 14 17p12 12167376 12241723 74347 BAC195_G15 15 17p12 12204374 12284440 80066 BAC154_C22 16 17p12 12238722 12314874 76152 BAC195_F23 17 17p12 12262726 12364643 101917 BAC116_C19 18 17p12 12269714 12361238 91524 BAC26_H06 19 17p12 12277688 12374424 96736 BAC168_E04 20 17p12 12291909 12410866 118957 BAC200_M22 21 17p12 12295157 12374406 79249 BAC36_P09 22 17p12 12335482 12466672 131190 BAC76_M23 23 17p12 12376887 12475905 99018 BAC52_M10 24 17p12 12378033 12466745 88712 BAC218_N09 25 17p12 12378061 12470272 92211 BAC150_P01 26 17p12 12677770 12786896 109126 BAC79_B09 27 17p12 12678501 12784001 105500 BAC22_K11 28 17p12 12783918 12889769 105851 BAC176_C19 29 17p12 12820958 12920520 99562 BAC15_A10 30 17p12 12867910 12963846 95936 BAC106_P16 31 17p12 12880618 12959994 79376 BAC249_K10 32 17p12 12918381 13029611 111230 BAC184_L01 33 17p12 13016097 13100250 84153 BAC189_J07 34 17p12 13029466 13127270 97804 BAC61_D08 35 17p12 13060432 13215127 154695 BAC244_L09 36 17p12 13194210 13287251 93041 BAC109_M13 37 17p12 13264510 13388356 123846 BAC114_G12 38 17p12 13269452 13373578 104126 BAC95_C03 39 17p12 13287109 13379964 92855 BAC197_M12 40 17p12 13325685 13424799 99114 BAC52_F06 41 17p12 13329586 13477712 148126 BAC194_H24 42 17p12 13448677 13537070 88393 BAC50_A03 43 17p12 13501040 13630149 129109 BAC70_B18 44 17p12 13534777 13622165 87388 BAC226_F13 45 17p12 13552445 13656979 104534 BAC50_K13 46 17p12 13565013 13654926 89913 BAC30_K11 47 17p12 13725159 13812828 87669 BAC175_C21 48 17p12 13744679 13842394 97715 BAC77_I01 49 17p12 13776654 13858386 81732 BAC39_N11 50 17p12 13776676 13891236 114560 BAC189_P23 51 17p12 13784869 13860050 75181 BAC88_G20 52 17p12 13891681 14022617 130936 BAC108_M02 53 17p12 13954262 14068912 114650 BAC159_G08 54 17p12 13988264 14070150 81886 BAC171_P01 55 17p12 14070322 14146599 76277 BAC153_J07 56 17p12 14120716 14200791 80075 BAC89_P08 57 17p12 14174783 14283750 108967 BAC102_C20 58 17p12 14195965 14348778 152813 BAC127_A05 59 17p12 14196573 14296928 100355 BAC42_K14 60 17p12 14258761 14446116 187355 BAC235_I13 61 17p12 14336905 14421756 84851 BAC38_I19 62 17p12 14336912 14455025 118113 BAC118_C17 63 17p12 14392821 14476828 84007 BAC132_H11 64 17p12 14454928 14546494 91566 BAC38_O21 65 17p12 14514381 14604050 89669 BAC156_I11 66 17p12 14531677 14613398 81721 BAC168_M23 67 17p12 14537106 14616548 79442 BAC170_M14 68 17p12 14711135 14808289 97154 BAC33_L21 69 17p12 14804500 14913795 109295 BAC185_D08 70 17p12 14884357 14981705 97348 BAC65_C19 71 17p12 14960572 15058918 98346 BAC219_K23 72 17p12 14976175 15056221 80046 BAC157_G01 73 17p12 15093558 15208862 115304 BAC193_J12 74 17p12 15110864 15227229 116365 BAC140_P21 75 17p12 15117703 15211297 93594 BAC69_D20 76 17p12 15132146 15234625 102479 BAC163_B05 77 17p12 15147290 15251664 104374 BAC127_A13 78 17p12 15267749 15397538 129789 BAC59_O13 79 17p12 15291315 15400674 109359 BAC171_I03 80 17p12 15293504 15387860 94356 BAC103_H17 81 17p12 15293548 15384732 91184 BAC240_L04 82 17p12 15305705 15364092 58387 BAC180_E05 83 17p12 15314834 15404065 89231 BAC113_L01 84 17p12 15320794 15426185 105391 BAC193_F10 85 17p12 15344377 15420149 75772 BAC80_J24 86 17p12 15387712 15472607 84895 BAC227_C12 87 17p12 15406530 15494411 87881 BAC232_P15 88 17p12 15433058 15552649 119591 BAC154_G20 89 17p12 15467403 15549983 82580 BAC64_B16 90 17p12 15620998 15755383 134385 BAC198_H06 91 17p12 15657045 15755442 98397 BAC120_H23 92 17p12 15657050 15782155 125105 BAC182_G04 93 17p12 15739595 15819054 79459 BAC97_H12 94 17p12 15784582 15941885 157303 BAC102_C09 95 17p12-17p11.2 15818957 20693695 4874738 BAC41_E16 96 17p12 15847215 15926899 79684 BAC150_L13 97 17p12 15854845 15963018 108173 BAC124_J04 98 17p12 15897252 15992971 95719 BAC96_G24 99 17p12 15938321 16028412 90091 BAC66_G13 100 17p12 15941785 16044299 102514 BAC184_B05 101 17p12 15962872 16044301 81429 BAC60_L08 102 17p12 15962873 16060283 97410 BAC189_J17 103 17p12-17p11.2 16143400 16227881 84481 BAC88_H17 104 17p12-17p11.2 16143415 16236657 93242 BAC42_K11 105 17p11.2 16289956 16394927 104971 BAC240_E14 106 17p11.2 16394845 16489073 94228 BAC148_O18 107 17p11.2 16420254 16530913 110659 BAC125_N20 108 17p11.2 16557887 16711927 154040 BAC175_H10 109 17p11.2 16557890 16636429 78539 BAC146_D01 110 17p11.2 16557904 16636434 78530 BAC62_D24 111 17p11.2 16654529 16751004 96475 BAC186_K22 112 17p11.2 16724226 16796771 72545 BAC33_P23 113 17p11.2 16779978 16866784 86806 BAC14_G14 114 17p11.2 16796638 16913606 116968 BAC72_P14 115 17p11.2 16866681 16988595 121914 BAC131_K12 116 17p11.2 16909687 16990173 80486 BAC197_O11 117 17p11.2 17025266 17165284 140018 BAC26_I07 118 17p11.2 17025339 17091291 65952 BAC36_F12 119 17p11.2 17074074 17165053 90979 BAC129_D23 120 17p11.2 17158746 17245353 86607 BAC101_K17 121 17p11.2 17245267 17333785 88518 BAC123_D23 122 17p11.2 17245267 17357212 111945 BAC89_C18 123 17p11.2 17276220 17391839 115619 BAC90_H16 124 17p11.2 17283727 17383307 99580 BAC198_N13 125 17p11.2 17283752 17390460 106708 BAC154_C08 126 17p11.2 17295654 17419340 123686 BAC179_F21 127 17p11.2 17324665 17419329 94664 BAC189_N01 128 17p11.2 17390295 17465331 75036 BAC20_P07 129 17p11.2 17419240 17530721 111481 BAC167_A18 130 17p11.2 17419255 17572653 153398 BAC95_I12 131 17p11.2 17482800 17572594 89794 BAC155_B06 132 17p11.2 17484086 17572609 88523 BAC56_J17 133 17p11.2 17551815 17665243 113428 BAC36_C18 134 17p11.2 17579594 17676682 97088 BAC170_M10 135 17p11.2 17588731 17678229 89498 BAC236_B14 136 17p11.2 17698446 17776240 77794 BAC76_J10 137 17p11.2 17709665 17806257 96592 BAC165_E09 138 17p11.2 17723644 17806266 82622 BAC249_G12 139 17p11.2 17776414 17890030 113616 BAC41_D18 140 17p11.2 17889883 18025228 135345 BAC131_M11 141 17p11.2 17916386 17992329 75943 BAC103_D11 142 17p11.2 17935441 18032930 97489 BAC57_N06 143 17p11.2 18030897 18165192 134295 BAC197_E01 145 17p11.2 18044616 18128976 84360 BAC20_D12 146 17p11.2 18128850 18219224 90374 BAC238_N13 147 17p11.2 18165108 18259978 94870 BAC57_C22 148 17p11.2 18202515 18354860 152345 BAC184_A04 149 17p11.2 18206784 18295425 88641 BAC70_D14 150 17p11.2 18206800 18295476 88676 BAC186_E14 151 17p11.2 18332672 18452458 119786 BAC97_I20 152 17p11.2 18393829 18513020 119191 BAC199_D08 153 17p11.2 18403056 18513020 109964 BAC154_P06 154 17p11.2 18421956 18508299 86343 BAC39_C07 155 17p11.2 18507215 18613862 106647 BAC228_C10 156 17p11.2 18594104 18712014 117910 BAC81_H03 157 17p11.2 18594109 18726670 132561 BAC58_P21 158 17p11.2 18635594 18755396 119802 BAC233_A12 159 17p11.2 18737655 18849936 112281 BAC153_J19 160 17p11.2 18746164 18831879 85715 BAC189_M02 161 17p11.2 18773717 18895449 121732 BAC132_A14 162 17p11.2 18805385 18918916 113531 BAC95_F14 163 17p11.2 18807265 18895443 88178 BAC191_B21 164 17p11.2 18808618 18884963 76345 BAC132_L20 165 17p11.2 18811539 18902037 90498 BAC232_D17 166 17p11.2 18812507 18903860 91353 BAC77_C07 167 17p11.2 18831796 18927011 95215 BAC61_M05 168 17p11.2 18845354 19050538 205184 BAC57_D11 169 17p11.2 18897566 19000464 102898 BAC77_B01 170 17p11.2 18952608 19072845 120237 BAC84_B04 171 17p11.2 19079201 19218785 139584 BAC160_J02 172 17p11.2 19225463 19266078 40615 BAC109_F04 173 17p11.2 19244444 19304469 60025 BAC31_F09 174 17p11.2 19244499 19310543 66044 BAC54_L12 175 17p11.2 19244500 19313051 68551 BAC183_B05 176 17p11.2 19265193 19337891 72698 BAC97_K11 177 17p11.2 19313826 19387684 73858 BAC148_B12 178 17p11.2 19402824 19492063 89239 BAC26_B11 179 17p11.2 19526736 19640708 113972 BAC12_C18 180 17p11.2 19534378 19640758 106380 BAC92_D22 181 17p11.2 19534392 19651908 117516 BAC69_L23 182 17p11.2 19545442 19651910 106468 BAC175_P18 183 17p11.2 19563692 19648388 84696 BAC146_B24 184 17p11.2 19650991 19746822 95831 BAC27_K06 185 17p11.2 19651809 19749152 97343 BAC70_N14 186 17p11.2 19665863 19786182 120319 BAC171_D20 187 17p11.2 19680409 19788794 108385 BAC116_O21 189 17p11.2 19718981 19786183 67202 BAC10_I20 190 17p11.2 19739497 19816424 76927 BAC96_I07 191 17p11.2 19816311 19903394 87083 BAC249_G09 192 17p11.2 19867726 19989856 122130 BAC44_J06 193 17p11.2 19891394 19971811 80417 BAC193_P10 194 17p11.2 19926766 20039699 112933 BAC156_C17 195 17p11.2 20083455 20215023 131568 BAC36_G17 196 17p11.2 20083487 20218743 135256 BAC11_J06 197 17p11.2 20193464 20281761 88297 BAC124_E01 198 17p11.2 20228503 20332288 103785 BAC117_D16 199 17p11.2 20270202 20378561 108359 BAC188_P16 200 17p11.2 20340291 20436954 96663 BAC233_L09 201 17p11.2 20457471 20549617 92146 BAC20_M05 202 17p11.2 20457497 20526040 68543 BAC69_F02 203 17p11.2 20477768 20580390 102622 BAC237_C22 204 17p11.2 20499729 20600363 100634 BAC60_H06 205 17p11.2 20503572 20599301 95729 BAC141_A08 206 17p11.2 20511752 20596573 84821 BAC40_H06 207 17p11.2 20525954 20630471 104517 BAC142_P01 208 17p11.2 20596491 20693726 97235 BAC48_M08 209 17p11.2 20706155 20795955 89800 BAC223_H04 210 17p11.2 20734592 20851649 117057 BAC195_E10 211 17p11.2 20769887 20847051 77164 BAC200_J14 212 17p11.2 20811622 20895723 84101 BAC223_I12 213 17p11.2 20811641 20905322 93681 BAC28_P01 214 17p11.2 20851520 20989326 137806 BAC119_A16 215 17p11.2 20955668 21104977 149309 BAC4_G22 216 17p11.2 21004734 21099992 95258 BAC118_H17 217 17p11.2 21017214 21121333 104119 BAC40_J07 218 17p11.2 21028143 21121354 93211 BAC239_L05 219 17p11.2 21036358 21175468 139110 BAC32_C06 220 17p11.2 21134931 21313722 178791 BAC248_A23 221 17p11.2 21214133 21296062 81929 BAC142_A03 223 17p11.2 21214197 21315277 101080 BAC61_I13 224 17p11.2 21277948 21385816 107868 BAC236_B19 225 17p11.2 21315182 21425247 110065 BAC100_J04 226 17p11.2 21393550 21547843 154293 BAC139_B06 227 17p11.2-17p11.1 21411493 25423821 4012328 BAC130_E22 228 17p11.2 21425175 21493695 68520 BAC68_G08 229 17p11.2 21458460 21552363 93903 BAC26_L13 230 17p11.2 21843173 21970661 127488 BAC118_E14 231 17p11.2 21953893 22050818 96925 BAC236_B22 232 17p11.2 22031416 22050802 19386 BAC81_F21 233 17p11.2 22050715 22087819 37104 BAC168_D15 234 17p11.2 22050731 22088509 37778 BAC199_H24 235 17p11.2 22090493 22173463 82970

(8) Cri-du-chat Syndrome

Cri-du-chat syndrome can be diagnosed for Karyotype deletion 5p15.1-3. A DNA chip for detecting Cri-du-chat syndrome includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 299 of Table 10, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 10 Chromosomal location Chromosomal location in Human genome BAC DNA No. identified by FISH Start point End point size BAC252_L21 1 5q15.33 128831 243188 114357 BAC86_M05 2 5p15.33 388345 566699 178354 BAC28_G03 3 5p15.33 388362 470975 82613 BAC175_M08 4 5p15.33 556957 688609 131652 BAC117_B21 5 5p15.33 709724 796074 86350 BAC249_I16 6 5p15.33 726563 784281 57718 BAC243_K22 7 5p15.33 815908 825718 9810 BAC191_O13 8 5p15.33 847979 960171 112192 BAC169_O14 9 5p15.33 867344 883983 16639 BAC68_E06 10 5p15.33 886552 969978 83426 BAC6_B15 11 5p15.33 924729 1017218 92489 BAC247_H03 12 5p15.33 969882 1048818 78936 BAC61_H11 13 5p15.33 1102296 1194500 92204 BAC90_N23 14 5p15.33 1106547 1241252 134705 BAC135_O15 15 5p15.33 1169635 1257820 88185 BAC18_O05 16 5p15.33 1273885 1292497 18612 BAC122_J11 17 5p15.33 1370397 1445571 75174 BAC211_M10 18 5p15.33 1370460 1489245 118785 BAC131_N10 19 5p15.33 1370720 1470782 100062 BAC63_F14 20 5p15.33 1383248 1478276 95028 BAC237_H02 21 5p15.33 1415292 1510531 95239 BAC34_B10 22 5p15.33 1470700 1584463 113763 BAC34_B09 23 5p15.33 1470720 1584462 113742 BAC29_F02 24 5p15.33 1505944 1611560 105616 BAC213_E13 25 5p15.33 1621532 1721634 100102 BAC217_D13 26 5p15.33 1650124 1737212 87088 BAC84_A09 27 5p15.33 1738470 1740415 1945 BAC175_E04 28 5p15.33 1794107 1915566 121459 BAC151_C12 29 5p15.33 1817251 1903460 86209 BAC247_N16 30 5p15.33 1817260 1915551 98291 BAC179_N23 31 5p15.33 1823775 1915550 91775 BAC69_N04 32 5p15.33 1907352 1999043 91691 BAC158_L04 33 5p15.33 1907353 2037573 130220 BAC244_C11 34 5p15.33 1928449 2040646 112197 BAC125_G18 35 5p15.33 2033309 2152985 119676 BAC83_J08 36 5p15.33 2037456 2122146 84690 BAC197_J20 37 5p15.33 2037469 2120445 82976 BAC105_B18 38 5p15.33 2045977 2165957 119980 BAC5_H06 39 5p15.33 2052649 2153058 100409 BAC66_C02 40 5p15.33 2062344 2165598 103254 BAC193_G12 41 5p15.33 2062491 2165598 103107 BAC36_K24 42 5p15.33 2311466 2447317 135851 BAC107_O02 43 5p15.33 2366344 2447305 80961 BAC104_G21 44 5p15.33 2392625 2500908 108283 BAC32_I12 45 5p15.33 2483226 2612064 128838 BAC183_B03 46 5p15.33 2514663 2612031 97368 BAC143_B15 47 5p15.33 2593631 2676384 82753 BAC61_O23 48 5p15.33 2648303 2732500 84197 BAC72_D04 49 5p15.33 2653960 2774274 120314 BAC199_F16 50 5p15.33 2734487 2817350 82863 BAC109_N14 51 5p15.33 2928605 3058308 129703 BAC33_L02 52 5p15.33 2942822 3033354 90532 BAC181_E12 53 5p15.33 2999465 3098692 99227 BAC50_C18 54 5p15.33 3018427 3136089 117662 BAC108_J05 55 5p15.33 3058222 3137214 78992 BAC77_E02 56 5p15.33 3088284 3242722 154438 BAC65_N10 57 5p15.33 3112302 3233567 121265 BAC110_N16 58 5p15.33 3112302 3227037 114735 BAC163_J10 59 5p15.33 3217190 3347078 129888 BAC71_C17 60 5p15.33 3253808 3363041 109233 BAC141_O08 61 5p15.33 3276587 3357763 81176 BAC250_D10 62 5p15.33 3412389 3490837 78448 BAC15_D09 63 5p15.33 3412578 3514389 101811 BAC176_H02 64 5p15.33 3452446 3531939 79493 BAC67_N07 65 5p15.33 3452451 3585059 132608 BAC120_L17 66 5p15.33 3476647 3562003 85356 BAC76_L20 67 5p15.33 3514301 3662180 147879 BAC87_O17 68 5p15.33 3602731 3701408 98677 BAC233_H08 69 5p15.33 3633160 3728291 95131 BAC237_E02 70 5p15.33 3743316 3828612 85296 BAC34_E06 71 5p15.33 3792211 3881749 89538 BAC44_F08 72 5p15.33 3813985 3892313 78328 BAC124_N21 73 5p15.33 3828483 3915914 87431 BAC40_D07 74 5p15.33 3925500 4049114 123614 BAC224_A08 75 5p15.33 3956314 4034034 77720 BAC187_O05 76 5p15.33 3959084 4029775 70691 BAC179_F12 77 5p15.33 4043129 4155896 112767 BAC106_P07 78 5p15.33 4141817 4241225 99408 BAC244_A11 79 5p15.33 4141817 4221304 79487 BAC35_C02 80 5p15.33 4241136 4359629 118493 BAC177_O18 81 5p15.33 4267069 4364669 97600 BAC72_L14 82 5p15.33 4323690 4437198 113508 BAC53_I03 83 5p15.33 4329299 4432009 102710 BAC59_H16 84 5p15.33 4364587 4454823 90236 BAC97_J19 85 5p15.33 4364592 4463852 99260 BAC124_O14 86 5p15.33 4387784 4467693 79909 BAC250_F13 87 5p15.33-5p15.32 4454740 4545759 91019 BAC120_J18 88 5p15.33-5p15.32 4467502 4547938 80436 BAC240_E17 89 5p15.32 4502902 4587167 84265 BAC36_E17 90 5p15.32 4577336 4666070 88734 BAC141_O06 91 5p15.32 4579061 4655990 76929 BAC2_N07 92 5p15.32 4593594 4688789 95195 BAC83_D14 93 5p15.32 4800338 4884578 84240 BAC57_H16 94 5p15.32 4886171 4976171 90000 BAC37_D06 95 5p15.32 4924559 5061562 137003 BAC84_C03 96 5p15.32 4956086 5045269 89183 BAC1_J16 97 5p15.32 4993956 5102984 109028 BAC97_J08 98 5p15.32 5013176 5102912 89736 BAC165_I11 99 5p15.32 5031490 5121401 89911 BAC97_E15 100 5p15.32 5118171 5235263 117092 BAC10_D10 101 5p15.32 5135932 5220090 84158 BAC227_O20 102 5p15.32 5219991 5230429 10438 BAC154_L08 103 5p15.32 5335391 5416971 81580 BAC26_I23 104 5p15.32 5380009 5470289 90280 BAC62_E03 105 5p15.32 5481841 5566009 84168 BAC89_L15 106 5p15.32 5520243 5604993 84750 BAC56_N04 107 5p15.32 5536158 5633949 97791 BAC24_M22 108 5p15.32 5562090 5699062 136972 BAC42_P07 109 5p15.32 5597451 5781858 184407 BAC188_F16 110 5p15.32 5604912 5699391 94479 BAC163_H05 111 5p15.32 5657047 5741353 84306 BAC229_M02 112 5p15.32 5701489 5772649 71160 BAC29_P17 113 5p15.32 5719879 5818933 99054 BAC33_N01 114 5p15.32 5719892 5822943 103051 BAC39_I10 115 5p15.32 5735602 5818929 83327 BAC36_I19 116 5p15.32 5778220 5910617 132397 BAC106_I10 117 5p15.32 5782424 5871910 89486 BAC86_I08 118 5p15.32 5782482 5886208 103726 BAC33_J10 119 5p15.32 5782486 5880522 98036 BAC61_P05 120 5p15.32 5874152 6004581 130429 BAC166_N22 121 5p15.32 5935417 6023493 88076 BAC53_N21 122 5p15.32 6081058 6172404 91346 BAC1l0_I11 123 5p15.32 6120889 6262800 141911 BAC247_N06 124 5p15.32 6120949 6224149 103200 BAC119_O22 125 5p15.32 6275540 6369479 93939 BAC234_M21 126 5p15.32 6285814 6396449 110635 BAC241_K11 127 5p15.32 6304331 6396468 92137 BAC130_E06 128 5p15.32-5p15.31 6317183 6400159 82976 BAC46_G07 129 5p15.31 6410311 6505117 94806 BAC32_F22 130 5p15.31 6511597 6619797 108200 BAC69_I08 131 5p15.31 6553803 6693232 139429 BAC50_B21 132 5p15.31 6555883 6693288 137405 BAC149_O19 133 5p15.31 6560580 6693307 132727 BAC33_N12 134 5p15.31 6560581 6666502 105921 BAC147_H05 135 5p15.31 6570634 6669877 99243 BAC142_E02 136 5p15.31 6583924 6672248 88324 BAC155_M05 137 5p15.31 6652308 6732951 80643 BAC149_B17 138 5p15.31 6693091 6792131 99040 BAC6_N11 139 5p15.31 6693130 6866700 173570 BAC37_H22 140 5p15.31 6721112 6888557 167445 BAC157_E23 141 5p15.31 6722523 6798606 76083 BAC118_O10 142 5p15.31 6762018 6850028 88010 BAC170_N24 143 5p15.31 6771312 6847747 76435 BAC175_I10 144 5p15.31 6778744 6904953 126209 BAC18_N03 145 5p15.31 6809305 6892938 83633 BAC83_B11 146 5p15.31 6840472 6946171 105699 BAC49_E10 147 5p15.31 6867799 7003195 135396 BAC103_K13 148 5p15.31 6956146 7042218 86072 BAC197_N10 149 5p15.31 6958987 7053242 94255 BAC220_D03 150 5p15.31 7053123 7145737 92614 BAC176_D13 151 5p15.31 7103549 7205706 102157 BAC73_M02 152 5p15.31 7103553 7215572 112019 BAC56_D02 153 5p15.31 7239544 7314081 74537 BAC81_P13 154 5p15.31 7375569 7479791 104222 BAC175_H06 155 5p15.31 7404269 7527619 123350 BAC221_L09 156 5p15.31 7436025 7530461 94436 BAC222_D22 157 5p15.31 7484041 7626224 142183 BAC175_D24 158 5p15.31 7580061 7652998 72937 BAC231_L23 159 5p15.31 7583058 7678239 95181 BAC90_M21 160 5p15.31 7602187 7688914 86727 BAC9_B08 161 5p15.31 7641355 7735395 94040 BAC238_I05 162 5p15.31 7745038 7757404 12366 BAC21_E20 163 5p15.31 7757333 7849579 92246 BAC84_N11 164 5p15.31 7887418 8010671 123253 BAC34_K02 165 5p15.31 7910703 8021552 110849 BAC160_I22 166 5p15.31 7912970 8007042 94072 BAC33_B11 167 5p15.31 7920413 8033099 112686 BAC96_F16 168 5p15.31 7925092 8021535 96443 BAC30_K13 169 5p15.31 7962366 8115000 152634 BAC124_H05 170 5p15.31 8081113 8205507 124394 BAC57_O10 171 5p15.31 8114311 8206811 92500 BAC235_G05 172 5p15.31 8114320 8224909 110589 BAC161_P17 173 5p15.31 8114912 8232707 117795 BAC243_D13 174 5p15.31 8127624 8224903 97279 BAC110_N11 175 5p15.31 8198007 8290343 92336 BAC18_P07 176 5p15.31 8287106 8359001 71895 BAC51_P11 177 5p15.31 8358916 8456371 97455 BAC124_J05 178 5p15.31 8358919 8456626 97707 BAC230_G14 179 5p15.31 8408700 8508314 99614 BAC44_G01 180 5p15.31 8421405 8535069 113664 BAC168_H12 181 5p15.31 8491499 8601289 109790 BAC56_B13 182 5p15.31 8536307 8656833 120526 BAC199_F09 183 5p15.31 8543888 8669041 125153 BAC46_J07 184 5p15.31 8728105 8821340 93235 BAC105_N05 185 5p15.31 8921235 9012278 91043 BAC119_M02 186 5p15.31 9116078 9207071 90993 BAC81_E06 187 5p15.31 9116796 9220688 103892 BAC234_K14 189 5p15.31 9116796 9195293 78497 BAC30_M01 190 5p15.31 9238496 9333916 95420 BAC160_M10 191 5p15.31 9260537 9349611 89074 BAC170_I24 192 5p15.31 9300484 9396870 96386 BAC69_A21 193 5p15.31 9305100 9392660 87560 BAC67_I08 194 5p15.31 9309085 9394182 85097 BAC186_E12 195 5p15.31 9309085 9403929 94844 BAC143_N22 196 5p15.31 9511195 9591791 80596 BAC252_N08 197 5p15.31 9710106 9842173 132067 BAC64_P22 198 5p15.31 9737672 9835771 98099 BAC240_K06 199 5p15.31 9775378 9856192 80814 BAC192_E03 200 5p15.2 9983867 10077298 93431 BAC176_A01 201 5p15.2 10010645 10092340 81695 BAC170_E02 202 5p15.2 10010648 10092339 81691 BAC24_O17 203 5p15.2 10099859 10205628 105769 BAC196_H04 204 5p15.2 10221116 10306923 85807 BAC235_E04 205 5p15.2 10221119 10310483 89364 BAC66_F06 206 5p15.2 10383275 10491963 108688 BAC22_P08 207 5p15.2 10441541 10451636 10095 BAC108_J16 208 5p15.2 10487587 10635782 148195 BAC236_B20 209 5p15.2 10514853 10595988 81135 BAC8_J11 210 5p15.2 10534437 10643735 109298 BAC221_P01 211 5p15.2 10543333 10643749 100416 BAC115_A21 212 5p15.2 10551145 10656181 105036 BAC141_L07 213 5p15.2 10621042 10705776 84734 BAC132_I24 214 5p15.2 10903009 10976903 73894 BAC106_I04 215 5p15.2 10903034 11012288 109254 BAC175_F12 216 5p15.2 10921671 11011856 90185 BAC220_L14 217 5p15.2 10955940 11036262 80322 BAC75_F09 218 5p15.2 11007356 11103833 96477 BAC169_M11 219 5p15.2 11017396 11106608 89212 BAC172_K04 220 5p15.2 11017447 11104158 86711 BAC180_C09 221 5p15.2 11030916 11127830 96914 BAC248_F02 223 5p15.2 11055973 11145667 89694 BAC97_A16 224 5p15.2 11067372 11167650 100278 BAC119_K22 225 5p15.2 11073012 11170040 97028 BAC151_L09 226 5p15.2 11153127 11258317 105190 BAC242_E15 227 5p15.2 11163141 11277292 114151 BAC43_F04 228 5p15.2 11167549 11277305 109756 BAC230_D02 229 5p15.2 11173922 11263682 89760 BAC21_B09 230 5p15.2 11183558 11277294 93736 BAC151_L10 231 5p15.2 11202701 11296775 94074 BAC82_A09 232 5p15.2 11208897 11342678 133781 BAC187_A21 233 5p15.2 11334358 11425391 91033 BAC135_L06 234 5p15.2 11432189 11516715 84526 BAC173_O13 235 5p15.2 11868196 11962786 94590 BAC77_N16 236 5p15.2 11890831 12037300 146469 BAC183_D16 237 5p15.2 11947432 11948541 1109 BAC153_M02 238 5p15.2 11985373 12078591 93218 BAC55_L20 239 5p15.2 12007189 12130976 123787 BAC169_I12 240 5p15.2 12037141 12163680 126539 BAC223_P22 241 5p15.2 12037200 12114532 77332 BAC123_G09 242 5p15.2 12069850 12152486 82636 BAC128_E04 243 5p15.2 12069858 12217234 147376 BAC23_J19 245 5p15.2 12333920 12462134 128214 BAC155_G24 246 5p15.2 12493865 12577999 84134 BAC55_N03 247 5p15.2 12549463 12659027 109564 BAC182_I10 248 5p15.2 12789041 12879371 90330 BAC175_O23 249 5p15.2 12823902 12927401 103499 BAC131_F09 250 5p15.2 12823908 12918460 94552 BAC58_I20 251 5p15.2 13145730 13282407 136677 BAC4_P05 252 5p15.2 13218831 13314311 95480 BAC237_H15 253 5p15.2 13218887 13345272 126385 BAC178_K12 254 5p15.2 13290125 13362317 72192 BAC151_H24 255 5p15.2 13312339 13456042 143703 BAC50_P10 256 5p15.2 13405771 13556376 150605 BAC96_K16 257 5p15.2 13663563 13761343 97780 BAC230_P16 258 5p15.2 13679676 13787634 107958 BAC132_B03 259 5p15.2 13694033 13787634 93601 BAC186_M06 260 5p15.2 13702438 13787606 85168 BAC43_K23 261 5p15.2 13787542 13890083 102541 BAC68_C18 262 5p15.2 13828755 13966810 138055 BAC37_K08 263 5p15.2 13895801 14048071 152270 BAC37_B18 264 5p15.2 13929802 14031020 101218 BAC221_L15 265 5p15.2 13929803 14014005 84202 BAC145_J23 266 5p15.2 14030939 14113682 82743 BAC116_I11 267 5p15.2 14113570 14200996 87426 BAC31_M08 268 5p15.2 14113580 14279930 166350 BAC54_J02 269 5p15.2 14166160 14263204 97044 BAC210_L05 270 5p15.2 14187227 14287219 99992 BAC19_F07 271 5p15.2 14187228 14284154 96926 BAC160_B20 272 5p15.2 14264088 14340226 76138 BAC194_K22 273 5p15.2 14303315 14381518 78203 BAC139_F07 274 5p15.2 14307969 14418261 110292 BAC86_B20 275 5p15.2 14308956 14409273 100317 BAC188_F22 276 5p15.2 14330839 14415180 84341 BAC77_O18 278 5p15.2 14390377 14491264 100887 BAC107_D13 279 5p15.2 14392683 14541546 148863 BAC33_C10 280 5p15.2 14464342 14562801 98459 BAC184_J06 281 5p15.2 14475733 14576694 100961 BAC134_D14 282 5p15.2 14491127 14578216 87089 BAC92_A22 283 5p15.2 14525113 14627138 102025 BAC209_E18 284 5p15.2 14537284 14621205 83921 BAC57_F19 285 5p15.2 14597896 14703597 105701 BAC120_G13 286 5p15.2 14621106 14710419 89313 BAC91_H15 287 5p15.2 14626996 14727920 100924 BAC46_M22 288 5p15.2 14705239 14793277 88038 BAC123_B17 289 5p15.2 14734183 14814350 80167 BAC53_I05 290 5p15.2 14737265 14831516 94251 BAC148_B24 291 5p15.2 14835587 14939381 103794 BAC58_H19 292 5p15.2 14840914 14950347 109433 BAC41_B17 293 5p15.2 14886624 14888802 2178 BAC46_L15 294 5p15.2 14925975 15023813 97838 BAC90_N09 295 5p15.1 15127322 15215506 88184 BAC186_N20 296 5p15.1 15163246 15258844 95598 BAC176_B19 297 5p15.1 15199196 15258839 59643 BAC34_K19 298 5p15.1 15352613 15459965 107352 BAC154_K02 299 5p15.1 15352629 15479384 126755

(9) Digeorge Syndrome

Digeorge syndrome can be diagnosed for Karyotype deletion 22q11.1-2. A DNA chip for detecting Digeorge syndrome includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 231 of Table 11, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 11 Chromosomal location Chromosomal location in Human genome BAC DNA No. identified by FISH Start point End point size BAC250_H12 1 22q11.1 14440002 14531618 91616 BAC100_D18 2 22q11.1 14446040 14550110 104070 BAC53_N19 3 22q11.1 14458203 14564968 106765 BAC76_P10 4 22q11.1 14461693 14573397 111704 BAC66_L06 5 22q11.1 14493146 14622833 129687 BAC147_I21 6 22q11.1 14512518 14620326 107808 BAC31_C17 7 22q11.1 14527993 14620341 92348 BAC244_D17 8 22q11.1 14531459 14620306 88847 BAC73_K15 9 22q11.1 14536252 14623463 87211 BAC40_F02 10 22q11.1 14540246 14626410 86164 BAC102_D06 11 22q11.1 14550028 14653950 103922 BAC162_H14 12 22q11.1 14579035 14671429 92394 BAC188_N15 13 22q11.1 14585344 14681110 95766 BAC113_O16 14 22q11.1 14585375 14671412 86037 BAC37_N12 15 22q11.1 14627643 14720248 92605 BAC149_L12 16 22q11.1 14790152 14871100 80948 BAC21_C10 17 22q11.1 14796596 14907673 111077 BAC139_G13 18 22q11.1 14907574 14992678 85104 BAC58_H04 19 22q11.1 15510822 15690031 179209 BAC55_L03 20 22q11.1 15569914 15681450 111536 BAC44_H07 21 22q11.1 15571388 15699027 127639 BAC19_C05 22 22q11.1 15685657 15797579 111922 BAC29_M04 23 22q11.1 15723976 15827284 103308 BAC169_I04 24 22q11.1 15847567 15934193 86626 BAC173_K06 25 22q11.1 15875991 15971846 95855 BAC162_K19 26 22q11.1 15902446 15971783 69337 BAC237_N05 27 22q11.1 15902926 15989830 86904 BAC228_A03 28 22q11.1 15950440 16070110 119670 BAC53_L11 29 22q11.1 15961011 16091553 130542 BAC222_F01 30 22q11.1 15998269 16014027 15758 BAC193_J18 31 22q11.1 16008296 16103110 94814 BAC240_C17 32 22q11.1 16013856 16097804 83948 BAC76_E24 33 22q11.1 16128049 16239481 111432 BAC167_L20 34 22q11.1 16128093 16222881 94788 BAC186_A22 35 22q11.1-22q11.21 16239729 16320835 81106 BAC123_N08 36 22q11.1-22q11.21 16248820 16340395 91575 BAC124_P04 37 22q11.1-22q11.21 16261651 16364570 102919 BAC39_O22 38 22q11.1-22q11.21 16264299 16384261 119962 BAC42_J03 39 22q11.1-22q11.21 16290522 16378093 87571 BAC148_D17 40 22q11.1-22q11.21 16292074 16384262 92188 BAC108_K18 41 22q11.21 16311382 16407939 96557 BAC158_K10 42 22q11.21 16332003 16437272 105269 BAC158_H10 43 22q11.21 16332012 16437272 105260 BAC86_G14 44 22q11.21 16352247 16506400 154153 BAC200_F18 45 22q11.21 16352250 16442890 90640 BAC217_L17 46 22q11.21 16364460 16478369 113909 BAC147_M10 47 22q11.21 16381988 16491342 109354 BAC53_H10 48 22q11.21 16454669 16535942 81273 BAC153_I21 49 22q11.21 16454671 16579897 125226 BAC133_O24 50 22q11.21 16478219 16579900 101681 BAC186_I17 51 22q11.21 16478283 16564378 86095 BAC80_O05 52 22q11.21 16584219 16591901 7682 BAC185_A10 53 22q11.21 16585502 16703290 117788 BAC196_C16 54 22q11.21 16599272 16679947 80675 BAC114_F12 55 22q11.21 16660186 16742612 82426 BAC41_M07 56 22q11.21 16718938 16892330 173392 BAC67_K22 57 22q11.21 16718996 16840296 121300 BAC167_B18 58 22q11.21 16788052 16883295 95243 BAC168_C21 59 22q11.21 16794117 16901758 107641 BAC62_N23 60 22q11.21 16799783 16893727 93944 BAC197_M06 61 22q11.21 16808948 16883274 74326 BAC218_F18 62 22q11.21 16809022 16893819 84797 BAC103_E14 63 22q11.21 16813623 16901754 88131 BAC214_I04 64 22q11.21 16892175 16969954 77779 BAC55_I17 65 22q11.21 16899786 16989320 89534 BAC52_P06 66 22q11.21 17035984 17383792 347808 BAC181_O15 67 22q11.21 17248725 17362247 113522 BAC32_N17 68 22q11.21 17248730 17340545 91815 BAC161_L23 69 22q11.21 17416386 17496392 80006 BAC204_B09 70 22q11.21 17440670 17536372 95702 BAC196_A22 71 22q11.21 17440685 17537334 96649 BAC88_I06 72 22q11.21 17520575 17642310 121735 BAC169_K21 73 22q11.21 17684994 17767999 83005 BAC141_K20 74 22q11.21 17685059 17767958 82899 BAC145_P12 75 22q11.21 17721046 17883837 162791 BAC224_F10 76 22q11.21 17754423 17865240 110817 BAC193_E02 77 22q11.21 17827433 17911496 84063 BAC127_G04 78 22q11.21 17888656 17992847 104191 BAC176_N08 79 22q11.21 17888677 17952256 63579 BAC103_G19 80 22q11.21 17966944 18084491 117547 BAC82_N03 81 22q11.21 17981523 18115068 133545 BAC195_M18 82 22q11.21 17992737 18084436 91699 BAC73_G13 83 22q11.21 18054142 18133800 79658 BAC140_J13 84 22q11.21 18054155 18192798 138643 BAC45_L11 85 22q11.21 18114912 18236616 121704 BAC60_K03 86 22q11.21 18141717 18295173 153456 BAC154_P05 87 22q11.21 18193984 18282769 88785 BAC126_N11 88 22q11.21 18194724 18293115 98391 BAC193_H09 89 22q11.21 18194732 18293104 98372 BAC135_D20 90 22q11.21 18250892 18337061 86169 BAC101_M14 91 22q11.21 18337634 18458154 120520 BAC179_L07 92 22q11.21 18337654 18422012 84358 BAC198_G21 93 22q11.21 18507946 18624974 117028 BAC177_K05 94 22q11.21 18536694 18620613 83919 BAC186_B16 95 22q11.21 18536732 18620602 83870 BAC107_J10 96 22q11.21 19020077 20180677 1160600 BAC120_J19 97 22q11.21 19027528 19993993 966465 BAC210_F18 98 22q11.21 19054027 19145632 91605 BAC249_B23 99 22q11.21 19145479 19256475 110996 BAC32_E13 100 22q11.21 19182855 19339950 157095 BAC132_K21 101 22q11.21 19339819 19497300 157481 BAC201_I03 102 22q11.21 19341954 19453109 111155 BAC235_E11 103 22q11.21 19372279 19502515 130236 BAC144_P14 104 22q11.21 19372296 19502516 130220 BAC25_K01 105 22q11.21 19384280 19502531 118251 BAC26_P01 106 22q11.21 19384282 19534559 150277 BAC128_P06 107 22q11.21 19395280 19477701 82421 BAC35_O12 108 22q11.21 19397402 19496086 98684 BAC90_N16 109 22q11.21 19408575 19501234 92659 BAC33_G05 110 22q11.21 19443074 19568360 125286 BAC122_J17 111 22q11.21 19501143 19658729 157586 BAC130_B10 112 22q11.21 19555616 19641776 86160 BAC224_D06 113 22q11.21 19564867 19641786 76919 BAC142_L17 114 22q11.21 19664731 19803112 138381 BAC146_P20 115 22q11.21 19678462 19803117 124655 BAC18_C02 116 22q11.21 19678523 19777877 99354 BAC222_A17 117 22q11.21 19678545 19777881 99336 BAC198_E11 118 22q11.21 19716578 19815275 98697 BAC226_I20 119 22q11.21 19777760 19849125 71365 BAC192_K12 120 22q11.21 19893709 19976514 82805 BAC23_G16 121 22q11.21 20029109 20101281 72172 BAC51_N20 122 22q11.21 20180535 20388075 207540 BAC175_B17 123 22q11.21 20286359 20388061 101702 BAC178_G14 124 22q11.21 20286359 20364442 78083 BAC194_H12 125 22q11.21 20332560 20439626 107066 BAC235_A17 126 22q11.21 20404870 20488319 83449 BAC196_E04 127 22q11.22 20606478 20710316 103838 BAC247_B13 128 22q11.22 20617859 20708571 90712 BAC154_H02 129 22q11.22 20627415 20710314 82899 BAC108_G12 130 22q11.22 20670620 20762524 91904 BAC100_M23 131 22q11.22 20705924 20809656 103732 BAC120_H20 132 22q11.22 20710227 20809640 99413 BAC53_C19 133 22q11.22 20742121 20829845 87724 BAC52_E21 134 22q11.22 20881109 20995571 114462 BAC90_H14 135 22q11.22 20881135 20993568 112433 BAC191_I21 136 22q11.22 20892828 20993581 100753 BAC226_N02 137 22q11.22 20892871 20995580 102709 BAC123_E03 138 22q11.22 20892879 20997817 104938 BAC249_A07 139 22q11.22 20912733 20993584 80851 BAC166_G20 140 22q11.22 20924662 21039259 114597 BAC91_D24 141 22q11.22 20997706 21097832 100126 BAC182_N11 142 22q11.22 21020717 21099894 79177 BAC150_I15 143 22q11.22 21096868 21202228 105360 BAC71_L18 144 22q11.22 21142547 21215379 72832 BAC232_H01 145 22q11.22 21191557 21248454 56897 BAC125_M16 146 22q11.22 21241766 21327536 85770 BAC190_K15 147 22q11.22 21286489 21375817 89328 BAC146_J19 148 22q11.22 21315371 21393736 78365 BAC17_E13 149 22q11.22 21327420 21439293 111873 BAC219_F19 150 22q11.22 21393660 21509256 115596 BAC102_D24 151 22q11.22 21393663 21509338 115675 BAC204_K06 152 22q11.22 21534791 21625441 90650 BAC188_H10 153 22q11.22 21686971 21780809 93838 BAC235_G04 154 22q11.22 21687009 21771769 84760 BAC170_F13 155 22q11.22-22q11.23 21764932 21893837 128905 BAC169_G07 156 22q11.22-22q11.23 21780173 21893276 113103 BAC92_P17 157 22q11.23 21830862 21962549 131687 BAC187_I13 158 22q11.23 21866189 21962607 96418 BAC157_I03 159 22q11.23 21956169 22105616 149447 BAC100_N23 160 22q11.23 21962455 22054299 91844 BAC61_M11 161 22q11.23 21990926 22085595 94669 BAC237_I19 162 22q11.23 22013628 22096825 83197 BAC123_B21 163 22q11.23 22259401 22346943 87542 BAC170_B02 164 22q11.23 22369460 22494813 125353 BAC157_N19 165 22q11.23 22429737 22547624 117887 BAC132_J01 166 22q11.23 22430289 22575272 144983 BAC193_N18 167 22q11.23 22663632 22778729 115097 BAC171_J23 168 22q11.23 22705907 22782265 76358 BAC221_D14 169 22q11.23 22757104 22853964 96860 BAC89_L04 170 22q11.23 22778616 22866947 88331 BAC156_O21 171 22q11.23 22779895 22853951 74056 BAC233_D21 172 22q11.23 22865300 22951470 86170 BAC117_I21 173 22q11.23 22886592 22927463 40871 BAC28_L13 174 22q11.23 22922829 23034685 111856 BAC49_H20 175 22q11.23 22935020 23025268 90248 BAC67_E13 176 22q11.23 22946015 23034703 88688 BAC40_E10 177 22q11.23 22951401 23035946 84545 BAC247_C09 178 22q11.23 22951401 23059880 108479 BAC228_H17 179 22q11.23 23006886 23135328 128442 BAC154_L05 180 22q11.23 23034602 23119122 84520 BAC193_G11 181 22q11.23 23127527 23272351 144824 BAC170_F04 182 22q11.23 23135206 23216592 81386 BAC60_H22 183 22q11.23 23137736 23228258 90522 BAC158_B02 184 22q11.23 23181023 23272427 91404 BAC199_J01 185 22q11.23 23235170 23350054 114884 BAC80_K23 186 22q11.23 23276735 23453590 176855 BAC96_M16 187 22q11.23 23426152 23569727 143575 BAC190_C04 189 22q11.23 23428857 23523195 94338 BAC240_A03 190 22q11.23 23453434 23534019 80585 BAC238_H12 191 22q11.23 23523024 23633387 110363 BAC65_K03 192 22q11.23 23565930 23681963 116033 BAC234_L03 193 22q11.23 23565941 23657335 91394 BAC136_C03 194 22q11.23 23569636 23663437 93801 BAC220_K20 195 22q11.23 23666075 23771023 104948 BAC76_P14 196 22q11.23 23671008 23793198 122190 BAC231_H07 197 22q11.23 23676101 23771011 94910 BAC118_H08 198 22q11.23 23691316 23837599 146283 BAC183_F16 199 22q11.23 23764146 23829650 65504 BAC151_N20 200 22q11.23 23764185 23880311 116126 BAC62_A01 201 22q11.23 23797003 23907552 110549 BAC220_E12 202 22q11.23 23831447 23990525 159078 BAC184_B17 203 22q11.23 23842007 23933583 91576 BAC193_E06 204 22q11.23 24009516 24089848 80332 BAC199_I14 205 22q11.23 24009545 24110169 100624 BAC226_C08 206 22q11.23 24031544 24120179 88635 BAC175_P10 207 22q11.23 24050012 24136148 86136 BAC12_C06 208 22q11.23 24067463 24164283 96820 BAC159_K10 209 22q11.23 24067472 24190731 123259 BAC38_J11 210 22q11.23 24095308 24184121 88813 BAC234_P08 211 22q11.23 24145639 24243535 97896 BAC156_L12 212 22q11.23 24145705 24238644 92939 BAC62_L24 213 22q11.23 24145709 24261370 115661 BAC151_E16 214 22q11.23 24190588 24281526 90938 BAC150_E24 215 22q11.23 24207364 24297110 89746 BAC151_N05 216 22q11.23-22q12.1 24243456 24335182 91726 BAC26_F06 217 22q11.23-22q12.1 24267318 24367097 99779 BAC228_A12 218 22q12.1 24419161 24558215 139054 BAC248_B05 219 22q12.1 24420814 24504520 83706 BAC112_F05 220 22q12.1 24452320 24555375 103055 BAC59_M12 221 22q12.1 24452365 24555299 102934 BAC146_D03 223 22q12.1 24492191 24582859 90668 BAC43_L05 224 22q12.1 24548598 24644369 95771 BAC153_I19 225 22q12.1 24582788 24684485 101697 BAC32_D20 226 22q12.1 24595242 24791688 196446 BAC31_J04 227 22q12.1 24595244 24686321 91077 BAC55_C24 228 22q12.1 24601225 24689439 88214 BAC230_G24 229 22q12.1 24656694 24748468 91774 BAC173_A12 230 22q12.1 24684348 24776338 91990 BAC179_N04 231 22q12.1 24689358 24791695 102337

10) HNPP (Hereditary Neuropathy with Liability to Pressure Palsies) Disease

HNPP can be diagnosed for Karyotype deletion 17p11-12. A DNA chip for detecting HNPP includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 165 of Table 12, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 12 Chromosomal location Chromosomal location in Human genome BAC DNA No. identified by FISH Start point End point size BAC170_M14 1 17p12 14711135 14808289 97154 BAC33_L21 2 17p12 14804500 14913795 109295 BAC185_D08 3 17p12 14884357 14981705 97348 BAC65_C19 4 17p12 14960572 15058918 98346 BAC219_K23 5 17p12 14976175 15056221 80046 BAC157_G01 6 17p12 15093558 15208862 115304 BAC193_J12 7 17p12 15110864 15227229 116365 BAC140_P21 8 17p12 15117703 15211297 93594 BAC69_D20 9 17p12 15132146 15234625 102479 BAC163_B05 10 17p12 15147290 15251664 104374 BAC127_A13 11 17p12 15267749 15397538 129789 BAC59_O13 12 17p12 15291315 15400674 109359 BAC171_I03 13 17p12 15293504 15387860 94356 BAC103_H17 14 17p12 15293548 15384732 91184 BAC240_L04 15 17p12 15305705 15364092 58387 BAC180_E05 16 17p12 15314834 15404065 89231 BAC113_L01 17 17p12 15320794 15426185 105391 BAC193_F10 18 17p12 15344377 15420149 75772 BAC80_J24 19 17p12 15387712 15472607 84895 BAC227_C12 20 17p12 15406530 15494411 87881 BAC232_P15 21 17p12 15433058 15552649 119591 BAC154_G20 22 17p12 15467403 15549983 82580 BAC64_B16 23 17p12 15620998 15755383 134385 BAC198_H06 24 17p12 15657045 15755442 98397 BAC120_H23 25 17p12 15657050 15782155 125105 BAC182_G04 26 17p12 15739595 15819054 79459 BAC97_H12 27 17p12 15784582 15941885 157303 BAC102_C09 28 17p12-17p11.2 15818957 20693695 4874738 BAC41_E16 29 17p12 15847215 15926899 79684 BAC150_L13 30 17p12 15854845 15963018 108173 BAC124_J04 31 17p12 15897252 15992971 95719 BAC96_G24 32 17p12 15938321 16028412 90091 BAC66_G13 33 17p12 15941785 16044299 102514 BAC184_B05 34 17p12 15962872 16044301 81429 BAC60_L08 35 17p12 15962873 16060283 97410 BAC189_J17 36 17p12-17p11.2 16143400 16227881 84481 BAC88_H17 37 17p12-17p11.2 16143415 16236657 93242 BAC42_K11 38 17p11.2 16289956 16394927 104971 BAC240_E14 39 17p11.2 16394845 16489073 94228 BAC148_O18 40 17p11.2 16420254 16530913 110659 BAC125_N20 41 17p11.2 16557887 16711927 154040 BAC175_H10 42 17p11.2 16557890 16636429 78539 BAC146_D01 43 17p11.2 16557904 16636434 78530 BAC62_D24 44 17p11.2 16654529 16751004 96475 BAC186_K22 45 17p11.2 16724226 16796771 72545 BAC33_P23 46 17p11.2 16779978 16866784 86806 BAC14_G14 47 17p11.2 16796638 16913606 116968 BAC72_P14 48 17p11.2 16866681 16988595 121914 BAC131_K12 49 17p11.2 16909687 16990173 80486 BAC197_O11 50 17p11.2 17025266 17165284 140018 BAC26_I07 51 17p11.2 17025339 17091291 65952 BAC36_F12 52 17p11.2 17074074 17165053 90979 BAC129_D23 53 17p11.2 17158746 17245353 86607 BAC101_K17 54 17p11.2 17245267 17333785 88518 BAC123_D23 55 17p11.2 17245267 17357212 111945 BAC89_C18 56 17p11.2 17276220 17391839 115619 BAC90_H16 57 17p11.2 17283727 17383307 99580 BAC198_N13 58 17p11.2 17283752 17390460 106708 BAC154_C08 59 17p11.2 17295654 17419340 123686 BAC179_F21 60 17p11.2 17324665 17419329 94664 BAC189_N01 61 17p11.2 17390295 17465331 75036 BAC20_P07 62 17p11.2 17419240 17530721 111481 BAC167_A18 63 17p11.2 17419255 17572653 153398 BAC95_I12 64 17p11.2 17482800 17572594 89794 BAC155_B06 65 17p11.2 17484086 17572609 88523 BAC56_J17 66 17p11.2 17551815 17665243 113428 BAC36_C18 67 17p11.2 17579594 17676682 97088 BAC170_M10 68 17p11.2 17588731 17678229 89498 BAC236_B14 69 17p11.2 17698446 17776240 77794 BAC76_J10 70 17p11.2 17709665 17806257 96592 BAC165_E09 71 17p11.2 17723644 17806266 82622 BAC249_G12 72 17p11.2 17776414 17890030 113616 BAC41_D18 73 17p11.2 17889883 18025228 135345 BAC131_M11 74 17p11.2 17916386 17992329 75943 BAC103_D11 75 17p11.2 17935441 18032930 97489 BAC57_N06 76 17p11.2 18030897 18165192 134295 BAC197_E01 77 17p11.2 18044616 18128976 84360 BAC20_D12 78 17p11.2 18128850 18219224 90374 BAC238_N13 79 17p11.2 18165108 18259978 94870 BAC57_C22 80 17p11.2 18202515 18354860 152345 BAC184_A04 81 17p11.2 18206784 18295425 88641 BAC70_D14 82 17p11.2 18206800 18295476 88676 BAC186_E14 83 17p11.2 18332672 18452458 119786 BAC97_I20 84 17p11.2 18393829 18513020 119191 BAC199_D08 85 17p11.2 18403056 18513020 109964 BAC154_P06 86 17p11.2 18421956 18508299 86343 BAC39_C07 87 17p11.2 18507215 18613862 106647 BAC228_C10 88 17p11.2 18594104 18712014 117910 BAC81_H03 89 17p11.2 18594109 18726670 132561 BAC58_P21 90 17p11.2 18635594 18755396 119802 BAC233_A12 91 17p11.2 18737655 18849936 112281 BAC153_J19 92 17p11.2 18746164 18831879 85715 BAC189_M02 93 17p11.2 18773717 18895449 121732 BAC132_A14 94 17p11.2 18805385 18918916 113531 BAC95_F14 95 17p11.2 18807265 18895443 88178 BAC191_B21 96 17p11.2 18808618 18884963 76345 BAC132_L20 97 17p11.2 18811539 18902037 90498 BAC232_D17 98 17p11.2 18812507 18903860 91353 BAC77_C07 99 17p11.2 18831796 18927011 95215 BAC61_M05 100 17p11.2 18845354 19050538 205184 BAC57_D11 101 17p11.2 18897566 19000464 102898 BAC77_B01 102 17p11.2 18952608 19072845 120237 BAC84_B04 103 17p11.2 19079201 19218785 139584 BAC160_J02 104 17p11.2 19225463 19266078 40615 BAC109_F04 105 17p11.2 19244444 19304469 60025 BAC31_F09 106 17p11.2 19244499 19310543 66044 BAC54_L12 107 17p11.2 19244500 19313051 68551 BAC183_B05 108 17p11.2 19265193 19337891 72698 BAC97_K11 109 17p11.2 19313826 19387684 73858 BAC148_B12 110 17p11.2 19402824 19492063 89239 BAC26_B11 111 17p11.2 19526736 19640708 113972 BAC12_C18 112 17p11.2 19534378 19640758 106380 BAC92_D22 113 17p11.2 19534392 19651908 117516 BAC69_L23 114 17p11.2 19545442 19651910 106468 BAC175_P18 115 17p11.2 19563692 19648388 84696 BAC146_B24 116 17p11.2 19650991 19746822 95831 BAC27_K06 117 17p11.2 19651809 19749152 97343 BAC70_N14 118 17p11.2 19665863 19786182 120319 BAC171_D20 119 17p11.2 19680409 19788794 108385 BAC116_O21 120 17p11.2 19718981 19786183 67202 BAC10_I20 121 17p11.2 19739497 19816424 76927 BAC96_I07 122 17p11.2 19816311 19903394 87083 BAC249_G09 123 17p11.2 19867726 19989856 122130 BAC44_J06 124 17p11.2 19891394 19971811 80417 BAC193_P10 125 17p11.2 19926766 20039699 112933 BAC156_C17 126 17p11.2 20083455 20215023 131568 BAC36_G17 127 17p11.2 20083487 20218743 135256 BAC11_J06 128 17p11.2 20193464 20281761 88297 BAC124_E01 129 17p11.2 20228503 20332288 103785 BAC117_D16 130 17p11.2 20270202 20378561 108359 BAC188_P16 131 17p11.2 20340291 20436954 96663 BAC233_L09 132 17p11.2 20457471 20549617 92146 BAC20_M05 133 17p11.2 20457497 20526040 68543 BAC69_F02 134 17p11.2 20477768 20580390 102622 BAC237_C22 135 17p11.2 20499729 20600363 100634 BAC60_H06 136 17p11.2 20503572 20599301 95729 BAC141_A08 137 17p11.2 20511752 20596573 84821 BAC40_H06 138 17p11.2 20525954 20630471 104517 BAC142_P01 139 17p11.2 20596491 20693726 97235 BAC48_M08 140 17p11.2 20706155 20795955 89800 BAC223_H04 141 17p11.2 20734592 20851649 117057 BAC195_E10 142 17p11.2 20769887 20847051 77164 BAC200_J14 143 17p11.2 20811622 20895723 84101 BAC223_I12 144 17p11.2 20811641 20905322 93681 BAC28_P01 145 17p11.2 20851520 20989326 137806 BAC119_A16 146 17p11.2 20955668 21104977 149309 BAC4_G22 147 17p11.2 21004734 21099992 95258 BAC118_H17 148 17p11.2 21017214 21121333 104119 BAC40_J07 149 17p11.2 21028143 21121354 93211 BAC239_L05 150 17p11.2 21036358 21175468 139110 BAC32_C06 151 17p11.2 21134931 21313722 178791 BAC248_A23 152 17p11.2 21214133 21296062 81929 BAC142_A03 153 17p11.2 21214197 21315277 101080 BAC61_I13 154 17p11.2 21277948 21385816 107868 BAC236_B19 155 17p11.2 21315182 21425247 110065 BAC100_J04 156 17p11.2 21393550 21547843 154293 BAC139_B06 157 17p11.2-17q11.1 21411493 25423821 4012328 BAC130_E22 158 17p11.2 21425175 21493695 68520 BAC68_G08 159 17p11.2 21458460 21552363 93903 BAC26_L13 160 17p11.2 21843173 21970661 127488 BAC118_E14 161 17p11.2 21953893 22050818 96925 BAC236_B22 162 17p11.2 22031416 22050802 19386 BAC81_F21 163 17p11.2 22050715 22087819 37104 BAC168_D15 164 17p11.2 22050731 22088509 37778 BAC199_H24 165 17p11.2 22090493 22173463 82970

(11) Miller-Dieker Syndrome

Miller-Dieker syndrome can be diagnosed for Karyotype deletion 17p13.2-3. A DNA chip for detecting Miller-Dieker syndrome includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 137 of Table 13, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 13 Chromo- somal location Chromosomal location identified in Human genome BAC DNA No. by FISH Start point End point size BAC95_J10 1 17p13.3 64800 139216 74416 BAC156_A11 2 17p13.3 64812 169940 105128 BAC25_B05 3 17p13.3 139132 302271 163139 BAC197_A20 4 17p13.3 154688 255949 101261 BAC66_O11 5 17p13.3 155580 263887 108307 BAC219_G17 6 17p13.3 169850 242505 72655 BAC110_O13 7 17p13.3 195809 331942 136133 BAC199_F13 8 17p13.3 195813 271824 76011 BAC226_F20 9 17p13.3 440934 541847 100913 BAC60_O14 10 17p13.3 440974 444602 3628 BAC84_C19 11 17p13.3 448037 555316 107279 BAC49_N19 12 17p13.3 448041 582881 134840 BAC220_M24 13 17p13.3 555159 641658 86499 BAC34_H06 14 17p13.3 555211 641604 86393 BAC119_A07 15 17p13.3 588546 685736 97190 BAC141_P05 16 17p13.3 713179 787793 74614 BAC32_G05 17 17p13.3 816435 944490 128055 BAC160_I09 18 17p13.3 852455 945044 92589 BAC71_H10 19 17p13.3 916465 1060463 143998 BAC55_J01 20 17p13.3 944966 1079378 134412 BAC31_I23 21 17p13.3 944982 1029701 84719 BAC104_O02 22 17p13.3 944989 1060455 115466 BAC159_N11 23 17p13.3 965320 1090899 125579 BAC184_G24 24 17p13.3 1007662 1106304 98642 BAC38_B05 25 17p13.3 1035912 1370806 334894 BAC142_M22 26 17p13.3 1045102 1110071 64969 BAC217_L13 27 17p13.3 1079264 1380224 300960 BAC184_G09 28 17p13.3 1408955 1507994 99039 BAC163_F14 29 17p13.3 1409004 1521254 112250 BAC171_F06 30 17p13.3 1409004 1488367 79363 BAC80_A10 31 17p13.3 1437236 1549108 111872 BAC180_C17 32 17p13.3 1481243 1632824 151581 BAC78_F20 33 17p13.3 1602258 1771115 168857 BAC217_H14 34 17p13.3 1619175 1728028 108853 BAC163_D12 35 17p13.3 1619265 1742452 123187 BAC65_K23 36 17p13.3 1662255 1828663 166408 BAC101_E22 37 17p13.3 1718637 1873340 154703 BAC150_P22 38 17p13.3 1718682 1828663 109981 BAC12_I17 39 17p13.3 1760111 1873022 112911 BAC40_H23 40 17p13.3 1769413 1864391 94978 BAC95_G19 41 17p13.3 1872849 1975935 103086 BAC106_M10 42 17p13.3 1876442 1956231 79789 BAC69_C07 43 17p13.3 1876485 1970979 94494 BAC112_N05 44 17p13.3 1891790 1995088 103298 BAC237_F04 45 17p13.3 1891850 1975942 84092 BAC209_C22 46 17p13.3 1937629 2050730 113101 BAC80_M08 47 17p13.3 1990152 2084363 94211 BAC59_L21 48 17p13.3 1994050 2150546 156496 BAC39_H21 49 17p13.3 2019865 2171995 152130 BAC162_C13 50 17p13.3 2029196 2090384 61188 BAC8_D13 51 17p13.3 2047271 2178437 131166 BAC34_O15 52 17p13.3 2052014 2142638 90624 BAC160_N09 53 17p13.3 2079384 2171985 92601 BAC91_M16 54 17p13.3 2079445 2178421 98976 BAC50_H10 55 17p13.3 2142538 2237448 94910 BAC126_D23 56 17p13.3 2150478 2231023 80545 BAC153_G02 57 17p13.3 2150484 2236800 86316 BAC109_H09 58 17p13.3 2182705 2372182 189477 BAC122_J08 59 17p13.3 2313296 2407569 94273 BAC40_D11 60 17p13.3 2320597 2456825 136228 BAC176_L20 61 17p13.3 2374911 2468142 93231 BAC188_G13 62 17p13.3 2393571 2468132 74561 BAC183_G10 63 17p13.3 2443970 2545838 101868 BAC82_M13 63 17p13.3 2468056 2594074 126018 BAC125_I23 64 17p13.3 2482554 2576999 94445 BAC175_K10 65 17p13.3 2486322 2577034 90712 BAC226_F05 66 17p13.3 2486323 2577038 90715 BAC89_M06 67 17p13.3 2493663 2588416 94753 BAC46_G14 68 17p13.3 2516649 2594061 77412 BAC157_B02 69 17p13.3 2580013 2690941 110928 BAC234_G19 70 17p13.3 2588322 2702157 113835 BAC237_P03 71 17p13.3 2600587 2690939 90352 BAC10_A05 72 17p13.3 2634245 2734793 100548 BAC190_F10 73 17p13.3 2648213 2748214 100001 BAC186_M15 74 17p13.3 2720577 2893585 173008 BAC183_M06 75 17p13.13 2749030 2834151 85121 BAC195_P05 76 17p13.3 2752826 2834206 81380 BAC148_F06 77 17p13.3 2777609 2863478 85869 BAC31_H03 78 17p13.3 2777616 2863483 85867 BAC40_E12 79 17p13.3 2977133 3080635 103502 BAC194_G14 80 17p13.3 3001363 3090339 88976 BAC26_P17 81 17p13.3 3025028 3125343 100315 BAC247_D10 82 17p13.3 3072003 3151666 79663 BAC36_N06 83 17p13.3 3072523 3180602 108079 BAC122_O10 84 17p13.3- 3213606 3374638 161032 17p13.2 BAC106_K05 85 17p13.3- 3268233 3455857 187624 17p13.2 BAC154_K10 86 17p13.2 3323959 3418503 94544 BAC232_E03 87 17p13.2 3378469 3455863 77394 BAC35_K08 88 17p13.2 3511754 3631321 119567 BAC73_C22 89 17p13.2 3554395 3640306 85911 BAC200_I19 90 17p13.2 3610262 3694595 84333 BAC217_A05 91 17p13.2 3674472 3755413 80941 BAC186_H22 92 17p13.2 3692964 3813073 120109 BAC33_O16 93 17p13.2 3770500 3877821 107321 BAC192_G13 94 17p13.2 3777237 3870667 93430 BAC151_J24 95 17p13.2 3972239 4067990 95751 BAC246_O19 96 17p13.2 3972254 4049275 77021 BAC145_N20 97 17p13.2 3972256 4071522 99266 BAC237_H14 98 17p13.2 4078134 4167032 88898 BAC118_M12 99 17p13.2 4182139 4293897 111758 BAC8_J04 100 17p13.2 4182145 4359656 177511 BAC177_A22 101 17p13.2 4182145 4276005 93860 BAC73_A18 102 17p13.2 4188355 4267605 79250 BAC144_E16 103 17p13.2 4215724 4323128 107404 BAC6_J05 104 17p13.2 4236264 4377783 141519 BAC142_D02 105 17p13.2 4275959 4370246 94287 BAC52_H24 106 17p13.2 4293737 4386785 93048 BAC157_G11 107 17p13.2 4374088 4377780 3692 BAC236_B12 108 17p13.2 4433954 4530900 96946 BAC51_I06 109 17p13.2 4511904 4608096 96192 BAC165_K05 110 17p13.2 4534032 4620241 86209 BAC39_E15 111 17p13.2 4669470 4832933 163463 BAC1_A10 112 17p13.2 4732580 4831098 98518 BAC219_K06 113 17p13.2 4756087 4835323 79236 BAC27_B12 114 17p13.2 5060051 5198718 138667 BAC189_A24 115 17p13.2 5142270 5155722 13452 BAC163_I08 116 17p13.2 5181622 5323862 142240 BAC19_L13 117 17p13.2 5252313 5364075 111762 BAC58_D19 118 17p13.2 5258395 5359384 100989 BAC140_E06 119 17p13.2 5258401 5332448 74047 BAC50_B02 120 17p13.2 5264812 5358778 93966 BAC134_O19 121 17p13.2 5306934 5391890 84956 BAC38_J10 122 17p13.2 5358690 5476075 117385 BAC61_E13 123 17p13.2 5391794 5515041 123247 BAC124_A19 124 17p13.2 5391807 5543683 151876 BAC233_J22 125 17p13.2 5394259 5478311 84052 BAC11_M16 126 17p13.2 5404009 5510827 106818 BAC152_P06 127 17p13.2 5406393 5494515 88122 BAC112_B03 128 17p13.2 5406394 5515061 108667 BAC76_P20 129 17p13.2 5476282 5571700 95418 BAC86_E11 130 17p13.2 5515910 5616965 101055 BAC93_O20 131 17p13.2 5562182 5662324 100142 BAC22_O01 132 17p13.2 5594574 5699114 104540 BAC221_K09 133 17p13.2 5624175 5699124 74949 BAC196_C21 134 17p13.2 5624178 5716841 92663 BAC59_H08 135 17p13.2 5644318 5759034 114716 BAC238_L13 136 17p13.2 5716742 5790604 73862 BAC166_I21 137 17p13.2 5739464 5747430 7966

(12) Prader-Willi Syndrome

Prader-willi syndrome can be diagnosed for Karyotype deletion 15q11-13. A DNA chip for detecting Prader-willi syndrome includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 321 of Table 14, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 14 Chromo- somal Chromosomal location location in identified Human genome BAC DNA No. by FISH Start point End point size BAC141_C03 1 15q11.2 18382076 19517632 1135556 BAC246_K11 2 15q11.2 18455502 18533923 78421 BAC91_F06 3 15q11.2 18581333 19519542 938209 BAC186_E15 4 15q11.2 18625687 19546605 920918 BAC65_A01 5 15q11.2 18712675 18813560 100885 BAC18_M24 6 15q11.2 18717043 18813535 96492 BAC55_G12 7 15q11.2 18744714 18844909 100195 BAC109_M07 8 15q11.2 18753171 18844836 91665 BAC167_P01 9 15q11.2 18769076 18844900 75824 BAC73_M10 10 15q11.2 19023304 19119348 96044 BAC108_J23 11 15q11.2 19047746 19150666 102920 BAC83_C02 12 15q11.2 19104635 19232649 128014 BAC118_L12 13 15q11.2 19113566 20974303 1860737 BAC243_B24 14 15q11.2 19119293 20991978 1872685 BAC40_O04 15 15q11.2 19129034 20974336 1845302 BAC234_H10 16 15q11.2 19163585 19529225 365640 BAC120_M08 17 15q11.2 19164356 19263488 99132 BAC144_A10 18 15q11.2 19165513 19258620 93107 BAC182_O07 19 15q11.2 19165520 19250988 85468 BAC123_E02 20 15q11.2 19168659 19263492 94833 BAC107_E19 21 15q11.2 19199475 21043782 1844307 BAC80_A21 22 15q11.2 19200232 19319023 118791 BAC132_D08 23 15q11.2 19230676 19355302 124626 BAC73_E23 24 15q11.2 19258530 19367078 108548 BAC232_J20 25 15q11.2 19279907 19360994 81087 BAC100_H13 26 15q11.2 19317895 19399647 81752 BAC243_J13 27 15q11.2 19340540 19425482 84942 BAC217_O02 28 15q11.2 19356386 19391744 35358 BAC146_C18 29 15q11.2 19366904 19793707 426803 BAC140_H23 30 15q11.2 19452153 19868598 416445 BAC176_G05 31 15q11.2 19465162 19545771 80609 BAC107_A12 32 15q11.2 19776376 19878033 101657 BAC80_L19 33 15q11.2 19937913 20069228 131315 BAC248_A08 34 15q11.2 19939320 20062559 123239 BAC71_N13 35 15q11.2 19954318 20050201 95883 BAC146_H15 36 15q11.2 19954332 20077780 123448 BAC247_N02 37 15q11.2 19979490 20062562 83072 BAC185_A21 38 15q11.2 19991570 20083195 91625 BAC66_M12 39 15q11.2 20222006 21156734 934728 BAC92_A20 40 15q11.2 20328519 20421785 93266 BAC42_J12 41 15q11.2 20411014 20565256 154242 BAC82_A01 42 15q11.2 20411014 20515666 104652 BAC97_H23 43 15q11.2 20421683 20506419 84736 BAC244_M09 44 15q11.2 20482088 20570409 88321 BAC96_G19 45 15q11.2 20482094 20607463 125369 BAC123_I24 46 15q11.2 20548835 20665672 116837 BAC89_J16 47 15q11.2 20630355 20733202 102847 BAC136_C10 48 15q11.2 20686256 20771168 84912 BAC93_A23 49 15q11.2 20786661 20886850 100189 BAC151_I05 50 15q11.2 20791596 20875017 83421 BAC141_K24 51 15q11.2 20877586 20983283 105697 BAC238_B09 52 15q11.2 20936780 21022644 85864 BAC84_J11 53 15q11.2 21138610 21245928 107318 BAC234_N19 54 15q11.2 21138624 21205921 67297 BAC10_E02 55 15q11.2- 21173573 26526965 5353392 15q13.1 BAC39_B20 56 15q11.2 21202186 21225329 23143 BAC61_D19 57 15q11.2 21205765 21306526 100761 BAC28_D16 58 15q11.2 21208525 21226898 18373 BAC38_K16 59 15q11.2 21296360 21441554 145194 BAC73_A20 60 15q11.2 21338040 21431639 93599 BAC148_L16 61 15q11.2 21338057 21431587 93530 BAC218_E03 62 15q11.2 21351496 21431581 80085 BAC31_M12 63 15q11.2 21351509 21453785 102276 BAC111_B02 64 15q11.2 21414362 21495921 81559 BAC1_L18 65 15q11.2 21442266 21544680 102414 BAC56_G11 66 15q11.2 21454146 21597704 143558 BAC84_I09 67 15q11.2 21495803 21613165 117362 BAC34_E16 68 15q11.2 21495819 21588947 93128 BAC223_H07 69 15q11.2 21514731 21603329 88598 BAC188_N24 70 15q11.2 21603236 21716191 112955 BAC46_D01 71 15q11.2 21608170 21643440 35270 BAC237_N23 72 15q11.2 21683432 21782588 99156 BAC185_J12 73 15q11.2 21689484 21798347 108863 BAC11_E11 74 15q11.2 21753209 21868563 115354 BAC187_K14 75 15q11.2 21755224 21827899 72675 BAC155_L14 76 15q11.2 21849348 21941705 92357 BAC247_M05 77 15q11.2 21873919 21970298 96379 BAC173_O14 78 15q11.2 22109666 22196392 86726 BAC189_O02 79 15q11.2 22483627 22596331 112704 BAC183_O14 80 15q11.2 22522909 22609205 86296 BAC219_F10 81 15q11.2 22535395 22598097 62702 BAC180_F11 82 15q11.2 22652177 22727943 75766 BAC223_H02 83 15q11.2 22690669 22776215 85546 BAC217_F02 84 15q11.2 22764099 22852461 88362 BAC230_G04 85 15q11.2 22810604 22905812 95208 BAC155_J02 86 15q11.2 22819513 22906616 87103 BAC133_K17 87 15q11.2 22826721 22953046 126325 BAC88_I16 88 15q11.2 22852377 22953047 100670 BAC80_D21 89 15q11.2- 22952963 23059366 106403 15q12 BAC147_A15 90 15q12 23002283 23103304 101021 BAC71_A18 91 15q12 23097994 23184636 86642 BAC36_N10 92 15q12 23247880 23330804 82924 BAC163_D17 93 15q12 23266062 23362050 95988 BAC108_C16 94 15q12 23291956 23386063 94107 BAC110_P13 95 15q12 23324937 23451308 126371 BAC55_A23 96 15q12 23330199 23411751 81552 BAC106_F15 97 15q12 23335336 23411749 76413 BAC21_C02 98 15q12 23364792 23482854 118062 BAC226_K20 99 15q12 23393743 23481009 87266 BAC135_F07 100 15q12 23411631 23495077 83446 BAC162_N18 101 15q12 23427584 23520410 92826 BAC68_N10 102 15q12 23543464 23658889 115425 BAC12_A24 103 15q12 23543470 23686313 142843 BAC192_P17 104 15q12 23548156 23662752 114596 BAC92_A21 105 15q12 23579789 23674188 94399 BAC142_G09 106 15q12 23632192 23725644 93452 BAC148_G03 107 15q12 23632351 23735160 102809 BAC46_M10 108 15q12 23634033 23725651 91618 BAC160_H06 109 15q12 23662610 23776255 113645 BAC249_C08 110 15q12 23662669 23754493 91824 BAC79_C22 111 15q12 23897093 24050231 153138 BAC178_K14 112 15q12 23911330 23986611 75281 BAC187_J01 113 15q12 24003385 24088420 85035 BAC56_J08 114 15q12 24021035 24104986 83951 BAC106_F07 115 15q12 24115546 24214583 99037 BAC247_G10 116 15q12 24165098 24252655 87557 BAC50_P08 117 15q12 24169248 24254530 85282 BAC123_N23 118 15q12 24171747 24263411 91664 BAC248_C13 119 15q12 24277267 24380252 102985 BAC78_F07 120 15q12 24365663 24481932 116269 BAC180_J22 121 15q12 24394174 24501973 107799 BAC199_J15 122 15q12 24397328 24477098 79770 BAC21_O06 123 15q12 24425649 24550138 124489 BAC105_L07 124 15q12 24452906 24574011 121105 BAC144_F12 125 15q12 24715131 24838753 123622 BAC162_H22 126 15q12 24744989 24867883 122894 BAC181_E03 127 15q12 24776471 24863452 86981 BAC62_B05 128 15q12 24887538 24992463 104925 BAC23_C04 129 15q12 24894441 25016437 121996 BAC218_C05 130 15q12 25023664 25047824 24160 BAC8_E18 131 15q12 25256341 25363093 106752 BAC106_O13 132 15q12 25280377 25402891 122514 BAC187_I13 133 15q12 25361444 25492578 131134 BAC236_A03 134 15q12 25383696 25485582 101886 BAC187_N03 135 15q12 25426775 25525741 98966 BAC82_P01 136 15q12 25500610 25597528 96918 BAC91_O02 137 15q12 25543075 25674894 131819 BAC137_H09 138 15q12 25568151 25656759 88608 BAC25_G19 139 15q12- 25664673 25781065 116392 15q13.1 BAC33_E07 140 15q13.1 25752869 25869230 116361 BAC84_O23 141 15q13.1 25802932 25912747 109815 BAC111_H22 142 15q13.1 26070373 26168324 97951 BAC136_O23 143 15q13.1 26079558 26168323 88765 BAC161_D04 144 15q13.1 26422387 26505540 83153 BAC78_I18 145 15q13.1 26551519 26677039 125520 BAC33_G10 146 15q13.1 27026852 27200408 173556 BAC29_F11 147 15q13.1 27042253 27170055 127802 BAC196_I03 148 15q13.1 27044188 27144095 99907 BAC218_L02 149 15q13.1 27126444 27292546 166102 BAC73_H09 150 15q13.1 27144853 27232235 87382 BAC66_D02 151 15q13.1 27165793 27258882 93089 BAC43_H20 152 15q13.1 27258784 27388032 129248 BAC46_I18 153 15q13.1 27303238 27439388 136150 BAC64_N21 154 15q13.1 27445464 27539696 94232 BAC140_F21 155 15q13.1 27509801 27620258 110457 BAC182_D23 156 15q13.1 27526984 27607080 80096 BAC84_A10 157 15q13.1 27541714 27643198 101484 BAC238_I20 158 15q13.1 27624710 27728308 103598 BAC53_B04 159 15q13.1 27648611 27787077 138466 BAC24_E18 160 15q13.1 27662198 27764933 102735 BAC242_C09 161 15q13.1 27706865 27798175 91310 BAC43_E23 162 15q13.1 27745406 27836171 90765 BAC240_P07 163 15q13.1 27764790 27884447 119657 BAC46_D04 164 15q13.1- 27968136 28067878 99742 15q13.2 BAC142_D15 165 15q13.1- 27993604 28098643 105039 15q13.2 BAC143_H23 166 15q13.1- 27993605 28098587 104982 15q13.2 BAC243_O04 167 15q13.2 28015293 28589243 573950 BAC38_L21 168 15q13.2 28051211 28187361 136150 BAC37_L06 169 15q13.2 28268014 28383142 115128 BAC135_A04 170 15q13.2 28415534 28512548 97014 BAC143_E18 171 15q13.2 28567143 28645618 78475 BAC228_K02 172 15q13.2 28661319 28757422 96103 BAC64_E04 173 15q13.2 28700479 28774619 74140 BAC69_C17 174 15q13.2 28778775 28897821 119046 BAC173_E06 175 15q13.2- 28898602 28977101 78499 15q13.3 BAC66_J05 176 15q13.3 28939243 29044780 105537 BAC242_O02 177 15q13.3 29011346 29098099 86753 BAC91_I01 178 15q13.3 29022504 29117112 94608 BAC19_L10 179 15q13.3 29030253 29160435 130182 BAC100_C18 180 15q13.3 29203129 29327976 124847 BAC173_P11 181 15q13.3 29295729 29390354 94625 BAC83_O23 182 15q13.3 29340892 29427397 86505 BAC233_L15 183 15q13.3 29344204 29436814 92610 BAC36_N21 184 15q13.3 29403609 29544643 141034 BAC167_N16 185 15q13.3 29403670 29502412 98742 BAC171_B11 186 15q13.3 29417702 29485175 67473 BAC171_K22 187 15q13.3 29427164 29516013 88849 BAC26_K14 189 15q13.3 29509350 29596631 87281 BAC171_K10 190 15q13.3 29645335 29728311 82976 BAC50_A04 191 15q13.3 29655064 29746173 91109 BAC52_C08 192 15q13.3 29655064 29727747 72683 BAC228_H19 193 15q13.3 29668767 29783114 114347 BAC147_A09 194 15q13.3 29692789 29784549 91760 BAC89_K01 195 15q13.3 29698451 29790248 91797 BAC247_I03 196 15q13.3 29721645 29796232 74587 BAC175_A22 197 15q13.3 29863613 29946990 83377 BAC230_B04 198 15q13.3 29961600 30061995 100395 BAC177_J21 199 15q13.3 29991510 30080055 88545 BAC59_F17 200 15q13.3 30061880 30165725 103845 BAC229_A20 201 15q13.3 30077989 30158261 80272 BAC151_L17 202 15q13.3 30173807 30295887 122080 BAC238_I20 203 15q13.3 30205959 30293724 87765 BAC129_F03 204 15q13.3 30205960 30308564 102604 BAC41_A16 205 15q13.3 30237975 30348401 110426 BAC202_J02 206 15q13.3 30404184 30508524 104340 BAC101_D07 207 15q13.3 30488347 30638580 150233 BAC158_C16 208 15q13.3 30511423 30599678 88255 BAC191_N03 209 15q13.3 30511708 30602191 90483 BAC232_D19 210 15q13.3 30550149 30665944 115795 BAC248_H20 211 15q13.3 30635449 30730699 95250 BAC114_L13 212 15q13.3 30712399 30815409 103010 BAC27_K03 213 15q13.3 30730554 30827550 96996 BAC132_K14 214 15q13.3 30737151 30815413 78262 BAC120_D15 215 15q13.3 30948216 31038392 90176 BAC19_K22 216 15q13.3 30965893 31069044 103151 BAC122_N21 217 15q13.3 31135877 31222302 86425 BAC218_O13 218 15q13.3 31200034 31283966 83932 BAC111_F04 219 15q13.3 31205054 31302458 97404 BAC53_P12 220 15q13.3 31222982 31308004 85022 BAC19_B07 221 15q13.3 31226011 31344060 118049 BAC81_N23 223 15q13.3 31257484 31390456 132972 BAC82_D20 224 15q13.3- 31315084 31436460 121376 15q14 BAC80_L05 225 15q13.3- 31321681 31432069 110388 15q14 BAC248_J22 226 15q13.3- 31343978 31436545 92567 15q14 BAC243_M11 227 15q14 31412580 31557020 144440 BAC41_C03 228 15q14 31433811 31537139 103328 BAC8_F11 229 15q14 31485307 31641345 156038 BAC121_B19 230 15q14 31518311 31628605 110294 BAC200_M14 231 15q14 31521493 31609110 87617 BAC122_L19 232 15q14 31535224 31623920 88696 BAC25_K09 233 15q14 31537793 31641337 103544 BAC88_E07 234 15q14 31547025 31628579 81554 BAC92_E24 235 15q14 31643325 31754603 111278 BAC241_P21 236 15q14 31703121 31783313 80192 BAC63_O23 237 15q14 31767146 31868250 101104 BAC155_C12 238 15q14 31783240 31858316 75076 BAC180_E02 239 15q14 31785499 31871450 85951 BAC171_M10 240 15q14 31788229 31898892 110663 BAC127_N19 241 15q14 31788290 31898829 110539 BAC191_H15 242 15q14 31788306 31906494 118188 BAC219_B07 243 15q14 31788306 31871450 83144 BAC29_C06 245 15q14 31848958 31963408 114450 BAC176_K23 246 15q14 31883016 31977550 94534 BAC159_O02 247 15q14 31898700 32002677 103977 BAC10_H19 248 15q14 31931369 32058653 127284 BAC131_J16 249 15q14 31966330 31967483 1153 BAC77_F03 250 15q14 32037899 32138533 100634 BAC199_D21 251 15q14 32184973 32343104 158131 BAC6_P15 252 15q14 32215774 32312591 96817 BAC169_B03 253 15q14 32342893 32570241 227348 BAC120_B13 254 15q14 32419599 32519598 99999 BAC146_F05 255 15q14 32486870 32570171 83301 BAC149_D20 256 15q14 32509069 32561571 52502 BAC120_A10 257 15q14 32580020 32663436 83416 BAC182_K03 258 15q14 32673895 32775455 101560 BAC231_G05 259 15q14 32733528 32822895 89367 BAC134_I22 260 15q14 32733723 32839348 105625 BAC170_H09 261 15q14 32768081 32871486 103405 BAC175_N11 262 15q14 32796541 32881878 85337 BAC27_H01 263 15q14 32848753 32948522 99769 BAC55_F01 264 15q14 32982887 33114343 131456 BAC90_H23 265 15q14 32990625 33077539 86914 BAC31_M04 266 15q14 33006609 33114342 107733 BAC60_K11 267 15q14 33184047 33279272 95225 BAC250_A10 268 15q14 33200731 33306934 106203 BAC45_E18 269 15q14 33217881 33308444 90563 BAC163_P19 270 15q14 33266803 33353740 86937 BAC142_H23 271 15q14 33266826 33338983 72157 BAC44_P10 272 15q14 33279169 33392053 112884 BAC218_A23 273 15q14 33306785 33392053 85268 BAC161_E23 274 15q14 33414002 33494070 80068 BAC160_P12 275 15q14 33574426 33707079 132653 BAC153_G01 276 15q14 33667443 33757713 90270 BAC197_N21 278 15q14 33750051 33870988 120937 BAC115_H22 279 15q14 33820741 33918720 97979 BAC249_H05 280 15q14 33821244 33903301 82057 BAC222_L11 281 15q14 33835171 33918692 83521 BAC55_E13 282 15q14 33956760 33962431 5671 BAC20_N09 283 15q14 34214543 34335503 120960 BAC79_H24 284 15q14 34441601 34538530 96929 BAC22_A19 285 15q14 34466660 34555808 89148 BAC171_G19 286 15q14 34566082 34658669 92587 BAC223_P15 287 15q14 34682676 34801907 119231 BAC24_N04 288 15q14 34697013 34801917 104904 BAC17_L11 289 15q14 34739458 34852919 113461 BAC66_K21 290 15q14 34820291 34921791 101500 BAC65_N23 291 15q14 34827464 35021252 193788 BAC63_B21 292 15q14 34848521 34926999 78478 BAC156_O16 293 15q14 34885392 35045333 159941 BAC122_G14 294 15q14 34896335 34979136 82801 BAC217_K06 295 15q14 34926842 35021258 94416 BAC160_O17 296 15q14 34963703 35055599 91896 BAC141_B17 297 15q14 35057616 35147076 89460 BAC25_G07 298 15q14 35094074 35230543 136469 BAC90_E02 299 15q14 35117069 35230557 113488 BAC69_D07 300 15q14 35122961 35204471 81510 BAC102_B15 301 15q14 35526554 35616960 90406 BAC43_M07 302 15q14 35569726 35738635 168909 BAC5_P23 303 15q14 35606122 35719573 113451 BAC209_C08 304 15q14 35806454 35911436 104982 BAC144_O16 305 15q14 35826271 35903109 76838 BAC185_I12 306 15q14 35848662 35938309 89647 BAC110_L08 307 15q14 36023853 36118467 94614 BAC195_K03 308 15q14 36120105 36204585 84480 BAC18_B05 309 15q14 36161393 36253344 91951 BAC178_H21 310 15q14 36251437 36360038 108601 BAC20_D10 311 15q14 36253281 36374645 121364 BAC78_B12 312 15q14 36268977 36382680 113703 BAC198_F21 313 15q14 36478468 36572168 93700 BAC118_G22 314 15q14 36480885 36607004 126119 BAC182_H19 315 15q14 36595183 36679416 84233 BAC169_P23 316 15q14 36605683 36692826 87143 BAC107_C14 317 15q14 36632563 36723093 90530 BAC115_B12 318 15q14 36649432 36765705 116273 BAC153_O07 319 15q14 36660865 36756316 95451 BAC139_K19 320 15q14 36761310 36843001 81691 BAC179_G22 321 15q14 36776220 36884319 108099

(13) Rubinstein-Taybi Syndrome

Rubinstein-taybi syndrome can be diagnosed for Karyotype deletion 16p13.3. A DNA chip for detecting Rubinstein-taybi syndrome includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 141 of Table 15, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 15 Chromosomal Chromosomal location location in identified Human genome BAC DNA No. by FISH Start point End point size BAC142_G12 1 16p13.3 516853 617469 100616 BAC142_H12 2 16p13.3 516853 617469 100616 BAC250_L07 3 16p13.3 605415 704070 98655 BAC208_A15 4 16p13.3 720641 804644 84003 BAC249_C21 5 16p13.3 734807 812203 77396 BAC230_J12 6 16p13.3 734842 845667 110825 BAC239_F18 7 16p13.3 834107 906859 72752 BAC208_D07 8 16p13.3 863029 954010 90981 BAC61_H17 9 16p13.3 979429 1055483 76054 BAC35_O10 10 16p13.3 1137200 1256188 118988 BAC78_M22 11 16p13.3 1256110 1355806 99696 BAC68_D12 12 16p13.3 1409355 1501907 92552 BAC109_L07 13 16p13.3 1424231 1540754 116523 BAC8_E11 14 16p13.3 1424249 1525919 101670 BAC248_B09 15 16p13.3 1540615 1646306 105691 BAC175_F10 16 16p13.3 1561044 1690272 129228 BAC247_K17 17 16p13.3 1561065 1679951 118886 BAC205_E14 18 16p13.3 1561358 1660710 99352 BAC247_B19 19 16p13.3 1561392 1673861 112469 BAC30_J11 20 16p13.3 1563688 1646307 82619 BAC204_J01 21 16p13.3 1563745 1693582 129837 BAC160_N03 22 16p13.3 1563753 1680019 116266 BAC43_H21 23 16p13.3 1594978 1673856 78878 BAC60_D04 24 16p13.3 1646223 1750238 104015 BAC101_E17 25 16p13.3 1646223 1801163 154940 BAC26_C21 26 16p13.3 1660633 1801085 140452 BAC161_M07 27 16p13.3 1693519 1820649 127130 BAC208_N11 28 16p13.3 1750132 1831984 81852 BAC32_K07 29 16p13.3 1840125 1953739 113614 BAC133_O06 30 16p13.3 1848661 1928752 80091 BAC124_D13 31 16p13.3 1883046 1970703 87657 BAC252_I22 32 16p13.3 2066703 2157935 91232 BAC40_G22 33 16p13.3 2066719 2152652 85933 BAC53_J01 34 16p13.3 2076740 2196453 119713 BAC21_B08 35 16p13.3 2076741 2156740 79999 BAC116_P01 36 16p13.3 2156572 2269699 113127 BAC184_B18 37 16p13.3 2196281 2311075 114794 BAC221_H21 38 16p13.3 2260244 2352925 92681 BAC144_E21 39 16p13.3 2269617 2357113 87496 BAC124_A07 40 16p13.3 2270740 2352937 82197 BAC153_B21 41 16p13.3 2328215 2410350 82135 BAC71_B14 42 16p13.3 2374582 2496938 122356 BAC236_I05 43 16p13.3 2400543 2491319 90776 BAC153_A19 44 16p13.3 2405886 2513847 107961 BAC140_F05 45 16p13.3 2496850 2685986 189136 BAC150_A04 46 16p13.3 2858237 2947506 89269 BAC40_D16 47 16p13.3 2931257 3032329 101072 BAC67_A23 48 16p13.3 2936919 3022730 85811 BAC109_H14 49 16p13.3 2972416 2975331 2915 BAC188_G04 50 16p13.3 3022629 3105478 82849 BAC155_O09 51 16p13.3 3023051 3182151 159100 BAC144_H13 52 16p13.3 3032234 3148709 116475 BAC158_C07 53 16p13.3 3032240 3105415 73175 BAC59_B08 54 16p13.3 3119948 3203303 83355 BAC84_C17 55 16p13.3 3178597 3261330 82733 BAC177_J02 56 16p13.3 3179971 3281431 101460 BAC193_J09 57 16p13.3 3196566 3283228 86662 BAC136_D19 58 16p13.3 3202961 3301749 98788 BAC60_M03 59 16p13.3 3283122 3376833 93711 BAC49_J01 60 16p13.3 3291540 3426981 135441 BAC23_K05 61 16p13.3 3348066 3454552 106486 BAC102_D21 62 16p13.3 3496130 3589157 93027 BAC24_F07 63 16p13.3 3533952 3635083 101131 BAC178_J13 64 16p13.3 3546307 3652872 106565 BAC65_A23 65 16p13.3 3558897 3676918 118021 BAC171_C18 66 16p13.3 3588928 3676900 87972 BAC19_P16 67 16p13.3 3617142 3721871 104729 BAC200_A05 68 16p13.3 3662240 3764284 102044 BAC8_E02 69 16p13.3 3676801 3808206 131405 BAC176_N19 70 16p13.3 3676829 3777606 100777 BAC175_E01 71 16p13.3 3721790 3808222 86432 BAC243_O03 72 16p13.3 3764111 3900077 135966 BAC77_O20 73 16p13.3 3764182 3869131 104949 BAC33_C23 74 16p13.3 3799426 3925947 126521 BAC33_F18 75 16p13.3 3802918 3900073 97155 BAC19_O18 76 16p13.3 3966246 4073662 107416 BAC65_O23 77 16p13.3 3970031 4109399 139368 BAC229_B09 78 16p13.3 4003896 4170949 167053 BAC151_N12 79 16p13.3 4218427 4321997 103570 BAC153_I13 80 16p13.3 4218497 4321935 103438 BAC72_C06 81 16p13.3 4220542 4330838 110296 BAC45_N08 82 16p13.3 4266234 4362182 95948 BAC168_G05 83 16p13.3 4362069 4480722 118653 BAC42_O01 84 16p13.3 4396737 4495151 98414 BAC156_J23 85 16p13.3 4425040 4567524 142484 BAC234_H14 86 16p13.3 4445317 4533510 88193 BAC235_L13 87 16p13.3 4480585 4567481 86896 BAC10_M16 88 16p13.3 4508020 4607666 99646 BAC211_B22 89 16p13.3 4508293 4627920 119627 BAC210_A20 90 16p13.3 4533344 4621828 88484 BAC196_B08 91 16p13.3 4533365 4627937 94572 BAC224_L21 92 16p13.3 4586681 4730252 143571 BAC134_C23 93 16p13.3 4607574 4752288 144714 BAC119_O20 94 16p13.3 4621969 4714235 92266 BAC140_K07 95 16p13.3 4621997 4733318 111321 BAC142_C21 96 16p13.3 4621999 4733320 111321 BAC167_N23 97 16p13.3 4663676 4805399 141723 BAC55_A12 98 16p13.3 4677472 4752292 74820 BAC44_A02 99 16p13.3 4714152 4839582 125430 BAC101_M09 100 16p13.3 4775516 4872170 96654 BAC198_G05 101 16p13.3 4819843 4916448 96605 BAC109_N12 102 16p13.3 4907696 5003470 95774 BAC170_K10 103 16p13.3 4911373 5005974 94601 BAC226_C04 104 16p13.3 4951023 5036890 85867 BAC2_E10 105 16p13.3 4951031 5036957 85926 BAC120_L14 106 16p13.3 4962603 5051450 88847 BAC218_E19 107 16p13.3 4980243 5082645 102402 BAC51_I09 108 16p13.3 5012543 5120158 107615 BAC2_E13 109 16p13.3 5044334 5192459 148125 BAC190_H14 110 16p13.3 5068428 5209986 141558 BAC171_K23 111 16p13.3 5090122 5207172 117050 BAC244_M04 112 16p13.3 5101386 5193865 92479 BAC36_C15 113 16p13.3 5196878 5329816 132938 BAC24_D20 114 16p13.3 5391862 5556472 164610 BAC19_E20 115 16p13.3 5465141 5543370 78229 BAC14_H19 116 16p13.3 5555371 5699321 143950 BAC114_K10 117 16p13.3 5556391 5631850 75459 BAC184_G18 118 16p13.3 5566359 5668195 101836 BAC64_C21 119 16p13.3 5613773 5714264 100491 BAC234_M19 120 16p13.3 5631770 5714201 82431 BAC96_I19 121 16p13.3 5699219 5790183 90964 BAC90_K16 122 16p13.3 5753259 5875363 122104 BAC58_J20 123 16p13.3 5768424 5894466 126042 BAC31_C20 124 16p13.3 5769964 5864724 94760 BAC120_O17 125 16p13.3 5928274 6026041 97767 BAC208_M03 126 16p13.3 5971951 6086197 114246 BAC144_L17 127 16p13.3 6002063 6086183 84120 BAC59_H17 128 16p13.3 6061952 6182471 120519 BAC177_H05 129 16p13.3 6151410 6254645 103235 BAC145_J04 130 16p13.3 6174552 6272687 98135 BAC58_M10 131 16p13.3- 6298637 6409056 110419 16p13.2 BAC136_F13 132 16p13.3- 6318127 6409104 90977 16p13.2 BAC97_A23 133 16p13.3- 6388512 6464944 76432 16p13.2 BAC147_C23 134 16p13.2 6458270 6533019 74749 BAC9_J02 135 16p13.2 6560276 6737905 177629 BAC100_H02 136 16p13.2 6631478 6759323 127845 BAC81_M09 137 16p13.2 6833738 6961166 127428 BAC18_P05 138 16p13.2 6854156 6965698 111542 BAC31_G11 139 16p13.2 6856529 6869084 12555 BAC105_C09 140 16p13.2 6868931 6977422 108491 BAC20_H18 141 16p13.2 6890490 6970337 79847

(14) Smith-Magenes Syndrome

Smith-magenes syndrome can be diagnosed for Karyotype deletion 17p11.2. A DNA chip for detecting Smith-magenes syndrome includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 165 of Table 16, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 16 Chromo- somal Chromosomal location location in identified Human genome BAC DNA No. by FISH Start point End point size BAC170_M14 1 17p12 14711135 14808289 97154 BAC33_L21 2 17p12 14804500 14913795 109295 BAC185_D08 3 17p12 14884357 14981705 97348 BAC65_C19 4 17p12 14960572 15058918 98346 BAC219_K23 5 17p12 14976175 15056221 80046 BAC157_G01 6 17p12 15093558 15208862 115304 BAC193_J12 7 17p12 15110864 15227229 116365 BAC140_P21 8 17p12 15117703 15211297 93594 BAC69_D20 9 17p12 15132146 15234625 102479 BAC163_B05 10 17p12 15147290 15251664 104374 BAC127_A13 11 17p12 15267749 15397538 129789 BAC59_O13 12 17p12 15291315 15400674 109359 BAC171_I03 13 17p12 15293504 15387860 94356 BAC103_H17 14 17p12 15293548 15384732 91184 BAC240_L04 15 17p12 15305705 15364092 58387 BAC180_E05 16 17p12 15314834 15404065 89231 BAC113_L01 17 17p12 15320794 15426185 105391 BAC193_F10 18 17p12 15344377 15420149 75772 BAC80_J24 19 17p12 15387712 15472607 84895 BAC227_C12 20 17p12 15406530 15494411 87881 BAC232_P15 21 17p12 15433058 15552649 119591 BAC154_G20 22 17p12 15467403 15549983 82580 BAC64_B16 23 17p12 15620998 15755383 134385 BAC198_H06 24 17p12 15657045 15755442 98397 BAC120_H23 25 17p12 15657050 15782155 125105 BAC182_G04 26 17p12 15739595 15819054 79459 BAC97_H12 27 17p12 15784582 15941885 157303 BAC102_C09 28 17p12- 15818957 20693695 4874738 17p11.2 BAC41_E16 29 17p12 15847215 15926899 79684 BAC150_L13 30 17p12 15854845 15963018 108173 BAC124_J04 31 17p12 15897252 15992971 95719 BAC96_G24 32 17p12 15938321 16028412 90091 BAC66_G13 33 17p12 15941785 16044299 102514 BAC184_B05 34 17p12 15962872 16044301 81429 BAC60_L08 35 17p12 15962873 16060283 97410 BAC189_J17 36 17p12- 16143400 16227881 84481 17p11.2 BAC88_H17 37 17p12- 16143415 16236657 93242 17p11.2 BAC42_K11 38 17p11.2 16289956 16394927 104971 BAC240_E14 39 17p11.2 16394845 16489073 94228 BAC148_O18 40 17p11.2 16420254 16530913 110659 BAC125_N20 41 17p11.2 16557887 16711927 154040 BAC175_H10 42 17p11.2 16557890 16636429 78539 BAC146_D01 43 17p11.2 16557904 16636434 78530 BAC62_D24 44 17p11.2 16654529 16751004 96475 BAC186_K22 45 17p11.2 16724226 16796771 72545 BAC33_P23 46 17p11.2 16779978 16866784 86806 BAC14_G14 47 17p11.2 16796638 16913606 116968 BAC72_P14 48 17p11.2 16866681 16988595 121914 BAC131_K12 49 17p11.2 16909687 16990173 80486 BAC197_O11 50 17p11.2 17025266 17165284 140018 BAC26_I07 51 17p11.2 17025339 17091291 65952 BAC36_F12 52 17p11.2 17074074 17165053 90979 BAC129_D23 53 17p11.2 17158746 17245353 86607 BAC101_K17 54 17p11.2 17245267 17333785 88518 BAC123_D23 55 17p11.2 17245267 17357212 111945 BAC89_C18 56 17p11.2 17276220 17391839 115619 BAC90_H16 57 17p11.2 17283727 17383307 99580 BAC198_N13 58 17p11.2 17283752 17390460 106708 BAC154_C08 59 17p11.2 17295654 17419340 123686 BAC179_F21 60 17p11.2 17324665 17419329 94664 BAC189_N01 61 17p11.2 17390295 17465331 75036 BAC20_P07 62 17p11.2 17419240 17530721 111481 BAC167_A18 63 17p11.2 17419255 17572653 153398 BAC95_I12 64 17p11.2 17482800 17572594 89794 BAC155_B06 65 17p11.2 17484086 17572609 88523 BAC56_J17 66 17p11.2 17551815 17665243 113428 BAC36_C18 67 17p11.2 17579594 17676682 97088 BAC170_M10 68 17p11.2 17588731 17678229 89498 BAC236_B14 69 17p11.2 17698446 17776240 77794 BAC76_J10 70 17p11.2 17709665 17806257 96592 BAC165_E09 71 17p11.2 17723644 17806266 82622 BAC249_G12 72 17p11.2 17776414 17890030 113616 BAC41_D18 73 17p11.2 17889883 18025228 135345 BAC131_M11 74 17p11.2 17916386 17992329 75943 BAC103_D11 75 17p11.2 17935441 18032930 97489 BAC57_N06 76 17p11.2 18030897 18165192 134295 BAC197_E01 77 17p11.2 18044616 18128976 84360 BAC20_D12 78 17p11.2 18128850 18219224 90374 BAC238_N13 79 17p11.2 18165108 18259978 94870 BAC57_C22 80 17p11.2 18202515 18354860 152345 BAC184_A04 81 17p11.2 18206784 18295425 88641 BAC70_D14 82 17p11.2 18206800 18295476 88676 BAC186_E14 83 17p11.2 18332672 18452458 119786 BAC97_I20 84 17p11.2 18393829 18513020 119191 BAC199_D08 85 17p11.2 18403056 18513020 109964 BAC154_P06 86 17p11.2 18421956 18508299 86343 BAC39_C07 87 17p11.2 18507215 18613862 106647 BAC228_C10 88 17p11.2 18594104 18712014 117910 BAC81_H03 89 17p11.2 18594109 18726670 132561 BAC58_P21 90 17p11.2 18635594 18755396 119802 BAC233_A12 91 17p11.2 18737655 18849936 112281 BAC153_J19 92 17p11.2 18746164 18831879 85715 BAC189_M02 93 17p11.2 18773717 18895449 121732 BAC132_A14 94 17p11.2 18805385 18918916 113531 BAC95_F14 95 17p11.2 18807265 18895443 88178 BAC191_B21 96 17p11.2 18808618 18884963 76345 BAC132_L20 97 17p11.2 18811539 18902037 90498 BAC232_D17 98 17p11.2 18812507 18903860 91353 BAC77_C07 99 17p11.2 18831796 18927011 95215 BAC61_M05 100 17p11.2 18845354 19050538 205184 BAC57_D11 101 17p11.2 18897566 19000464 102898 BAC77_B01 102 17p11.2 18952608 19072845 120237 BAC84_B04 103 17p11.2 19079201 19218785 139584 BAC160_J02 104 17p11.2 19225463 19266078 40615 BAC109_F04 105 17p11.2 19244444 19304469 60025 BAC31_F09 106 17p11.2 19244499 19310543 66044 BAC54_L12 107 17p11.2 19244500 19313051 68551 BAC183_B05 108 17p11.2 19265193 19337891 72698 BAC97_K11 109 17p11.2 19313826 19387684 73858 BAC148_B12 110 17p11.2 19402824 19492063 89239 BAC26_B11 111 17p11.2 19526736 19640708 113972 BAC12_C18 112 17p11.2 19534378 19640758 106380 BAC92_D22 113 17p11.2 19534392 19651908 117516 BAC69_L23 114 17p11.2 19545442 19651910 106468 BAC175_P18 115 17p11.2 19563692 19648388 84696 BAC146_B24 116 17p11.2 19650991 19746822 95831 BAC27_K06 117 17p11.2 19651809 19749152 97343 BAC70_N14 118 17p11.2 19665863 19786182 120319 BAC171_D20 119 17p11.2 19680409 19788794 108385 BAC116_O21 120 17p11.2 19718981 19786183 67202 BAC10_I20 121 17p11.2 19739497 19816424 76927 BAC96_I07 122 17p11.2 19816311 19903394 87083 BAC249_G09 123 17p11.2 19867726 19989856 122130 BAC44_J06 124 17p11.2 19891394 19971811 80417 BAC193_P10 125 17p11.2 19926766 20039699 112933 BAC156_C17 126 17p11.2 20083455 20215023 131568 BAC36_G17 127 17p11.2 20083487 20218743 135256 BAC11_J06 128 17p11.2 20193464 2028176 88297 BAC124_E01 129 17p11.2 20228503 20332288 103785 BAC117_D16 130 17p11.2 20270202 20378561 108359 BAC188_P16 131 17p11.2 20340291 20436954 96663 BAC233_L09 132 17p11.2 20457471 20549617 92146 BAC20_M05 133 17p11.2 20457497 20526040 68543 BAC69_F02 134 17p11.2 20477768 20580390 102622 BAC237_C22 135 17p11.2 20499729 20600363 100634 BAC60_H06 136 17p11.2 20503572 20599301 95729 BAC141_A08 137 17p11.2 20511752 20596573 84821 BAC40_H06 138 17p11.2 20525954 20630471 104517 BAC142_P01 139 17p11.2 20596491 20693726 97235 BAC48_M08 140 17p11.2 20706155 20795955 89800 BAC223_H04 141 17p11.2 20734592 20851649 117057 BAC195_E10 142 17p11.2 20769887 20847051 77164 BAC200_J14 143 17p11.2 20811622 20895723 84101 BAC223_I12 144 17p11.2 20811641 20905322 93681 BAC28_P01 145 17p11.2 20851520 20989326 137806 BAC119_A16 146 17p11.2 20955668 21104977 149309 BAC4_G22 147 17p11.2 21004734 21099992 95258 BAC118_H17 148 17p11.2 21017214 21121333 104119 BAC40_J07 149 17p11.2 21028143 21121354 93211 BAC239_L05 150 17p11.2 21036358 21175468 139110 BAC32_C06 151 17p11.2 21134931 21313722 178791 BAC248_A23 152 17p11.2 21214133 21296062 81929 BAC142_A03 153 17p11.2 21214197 21315277 101080 BAC61_I13 154 17p11.2 21277948 21385816 107868 BAC236_B19 155 17p11.2 21315182 21425247 110065 BAC100_J04 156 17p11.2 21393550 21547843 154293 BAC139_B06 157 17p11.2- 21411493 25423821 4012328 17q11.1 BAC130_E22 158 17p11.2 21425175 21493695 68520 BAC68_G08 159 17p11.2 21458460 21552363 93903 BAC26_L13 160 17p11.2 21843173 21970661 127488 BAC118_E14 161 17p11.2 21953893 22050818 96925 BAC236_B22 162 17p11.2 22031416 22050802 19386 BAC81_F21 163 17p11.2 22050715 22087819 37104 BAC168_D15 164 17p11.2 22050731 22088509 37778 BAC199_H24 165 17p11.2 22090493 22173463 82970

(15) Williams Syndrome

Williams syndrome can be diagnosed for Karyotype 7q11.2. A DNA chip for detecting Williams syndrome includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 282 of Table 17, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 17 Chromo- somal Chromosomal location location in Human identified genome BAC DNA No. by FISH Start point End point size BAC31_J17 1 7p11.21 61898867 62012925 114058 BAC230_H11 2 7q11.21 61906746 62006391 99645 BAC219_N06 3 7q11.21 62003557 62086976 83419 BAC125_M01 4 7q11.21 62006308 62089408 83100 BAC79_J10 5 7q11.21 62006309 62089407 83098 BAC235_C03 6 7q11.21 62487299 62647481 160182 BAC161_E01 7 7q11.21 62511674 62617299 105625 BAC146_C03 8 7q11.21 62558809 62692316 133507 BAC197_C09 9 7q11.21 62617209 62709653 92444 BAC177_O21 10 7q11.21 62667885 62779586 111701 BAC46_C20 11 7q11.21 62692225 62710922 18697 BAC119_P24 12 7q11.21 62735353 62826753 91400 BAC82_I06 13 7q11.21 63089309 63177668 88359 BAC46_M19 14 7q11.21 63214056 63300526 86470 BAC69_D08 15 7q11.21 63342168 63460174 118006 BAC198_P18 16 7q11.21 63397374 63490335 92961 BAC51_G10 17 7q11.21 63470602 63580492 109890 BAC238_P05 18 7q11.21 63561375 63639888 78513 BAC53_G18 19 7q11.21 63661454 63757857 96403 BAC123_F15 20 7q11.21 63720133 63817862 97729 BAC237_F05 21 7q11.21 63811783 63907144 95361 BAC191_G16 22 7q11.21 63865238 63955867 90629 BAC81_I18 23 7q11.21 63972748 64116723 143975 BAC84_I14 24 7q11.21 63983037 64116724 133687 BAC148_E09 25 7q11.21 64116617 64231528 114911 BAC232_H16 26 7q11.21 64133870 64212364 78494 BAC238_K05 27 7q11.21 64139129 64236855 97726 BAC46_K09 28 7q11.21 64139131 64267840 128709 BAC187_J19 29 7q11.21 64142063 64231511 89448 BAC242_C06 30 7q11.21 64386614 64461703 75089 BAC125_G24 31 7q11.21 64612386 64616485 4099 BAC126_I06 32 7q11.21 64691631 64776208 84577 BAC146_M01 33 7q11.21 64832971 64931155 98184 BAC46_D05 34 7q11.21 64845556 64929573 84017 BAC36_G09 35 7q11.21 64859927 64958456 98529 BAC76_D12 36 7q11.21 64859943 64984074 124131 BAC36_D03 37 7q11.21 64947598 65051538 103940 BAC97_F16 38 7q11.21 65047197 65140959 93762 BAC161_J18 39 7q11.21 65123430 65219021 95591 BAC208_N14 40 7q11.21 65314771 65415296 100525 BAC165_N08 41 7q11.21 65321478 65424083 102605 BAC117_G15 42 7q11.21 65327111 65424151 97040 BAC61_A07 43 7q11.21 65335669 65430762 95093 BAC217_M14 44 7q11.21 65339164 65430744 91580 BAC148_M14 45 7q11.21 65424001 65526472 102471 BAC83_P10 46 7q11.21 65483170 65601991 118821 BAC69_M13 47 7q11.21 65497300 65581852 84552 BAC40_L06 48 7q11.21 65661295 65743736 82441 BAC51_E12 49 7q11.21 65665572 65766437 100865 BAC227_L03 50 7q11.21 65682942 65766456 83514 BAC160_B04 51 7q11.21 65687456 65783744 96288 BAC51_F07 52 7q11.21 65693948 65761645 67697 BAC117_P20 53 7q11.21 65783640 65902101 118461 BAC33_O12 54 7q11.21 65973887 66086068 112181 BAC76_F19 55 7q11.21 66011777 66105693 93916 BAC215_P15 56 7q11.21 66011784 66105710 93926 BAC120_H09 57 7q11.21 66011790 66111430 99640 BAC222_C15 58 7q11.21 66058776 66191269 132493 BAC57_L05 59 7q11.21 66072861 66163678 90817 BAC228_B08 60 7q11.21 66105630 66191263 85633 BAC188_G06 61 7q11.21 66184302 66265387 81085 BAC8_H16 62 7q11.21 66220391 66345347 124956 BAC78_E05 63 7q11.21- 66381145 66474772 93627 7q11.22 BAC128_D08 64 7q11.21- 66385404 66498401 112997 7q11.22 BAC139_E14 65 7q11.22 66419377 66519730 100353 BAC107_N11 66 7q11.22 66425765 66519770 94005 BAC161_L18 67 7q11.22 66428705 66547804 119099 BAC128_J19 68 7q11.22 66482696 66519724 37028 BAC82_O01 69 7q11.22 66538181 66649838 111657 BAC133_O21 70 7q11.22 66547636 66649838 102202 BAC169_F07 71 7q11.22 66567777 66653434 85657 BAC158_L15 72 7q11.22 66567794 66652656 84862 BAC218_O12 73 7q11.22 66571433 66675671 104238 BAC90_G14 74 7q11.22 66571507 66671877 100370 BAC236_L05 75 7q11.22 66571508 66675690 104182 BAC20_H23 76 7q11.22 66649755 66774265 124510 BAC137_C21 77 7q11.22 66675592 66783002 107410 BAC8_M13 78 7q11.22 66675861 66754868 79007 BAC218_J15 79 7q11.22 66679852 66781819 101967 BAC143_J14 80 7q11.22 66679870 66741320 61450 BAC46_C16 81 7q11.22 66681514 66782959 101445 BAC6_P01 82 7q11.22 66779170 66870305 91135 BAC125_N03 83 7q11.22 66781730 66964103 182373 BAC65_P16 84 7q11.22 66786033 66902487 116454 BAC196_F09 85 7q11.22 66806226 66913966 107740 BAC179_A04 86 7q11.22 66852513 66961324 108811 BAC106_D06 87 7q11.22 66909209 67024230 115021 BAC102_M12 88 7q11.22 66996088 67082986 86898 BAC183_D14 89 7q11.22 67028243 67136491 108248 BAC5_H21 90 7q11.22 67096745 67191848 95103 BAC8_O09 91 7q11.22 67096797 67187070 90273 BAC10_G24 92 7q11.22 67096813 67188483 91670 BAC142_I04 93 7q11.22 67096814 67215599 118785 BAC187_G12 94 7q11.22 67096815 67182447 85632 BAC150_J10 95 7q11.22 67108468 67215062 106594 BAC105_G18 96 7q11.22 67176631 67268601 91970 BAC11_N14 97 7q11.22 67188385 67287651 99266 BAC15_K14 98 7q11.22 67196557 67284608 88051 BAC163_N06 99 7q11.22 67239919 67324569 84650 BAC112_A03 100 7q11.22 67324470 67414505 90035 BAC145_I01 101 7q11.22 67359985 67452933 92948 BAC59_I15 102 7q11.22 67359992 67501976 141984 BAC241_N17 103 7q11.22 67360068 67460666 100598 BAC155_E02 104 7q11.22 67397364 67479156 81792 BAC60_C01 105 7q11.22 67419827 67554428 134601 BAC181_C20 106 7q11.22 67450534 67554416 103882 BAC91_G02 107 7q11.22 67586010 67715678 129668 BAC97_O08 108 7q11.22 67614688 67732468 117780 BAC109_F03 109 7q11.22 67618846 67700997 82151 BAC168_J05 110 7q11.22 67651787 67740246 88459 BAC220_B16 111 7q11.22 67651806 67750446 98640 BAC176_G04 112 7q11.22 67704736 67786763 82027 BAC145_L15 113 7q11.22 67764969 67850122 85153 BAC179_H12 114 7q11.22 67843432 67934824 91392 BAC55_N01 115 7q11.22 67881652 68016895 135243 BAC231_H05 116 7q11.22 67883341 67998165 114824 BAC229_E01 117 7q11.22 68030299 68108688 78389 BAC75_E21 118 7q11.22 68067926 68157791 89865 BAC150_O19 119 7q11.22 68075993 68192194 116201 BAC149_J07 120 7q11.22 68186683 68277910 91227 BAC142_F05 121 7q11.22 68192613 68321544 128931 BAC141_C14 122 7q11.22 68245389 68351355 105966 BAC26_B01 123 7q11.22 68261556 68402043 140487 BAC248_N10 124 7q11.22 68261573 68367428 105855 BAC27_K23 125 7q11.22 68395665 68486457 90792 BAC204_C09 126 7q11.22 68410976 68524825 113849 BAC229_J11 127 7q11.22 68583965 68671049 87084 BAC151_F05 128 7q11.22 68616553 68703953 87400 BAC190_H05 129 7q11.22 68630518 68715303 84785 BAC250_I08 130 7q11.22 68754331 68837945 83614 BAC186_P01 131 7q11.22 68761724 68846953 85229 BAC237_B12 132 7q11.22 68875698 68954649 78951 BAC57_M19 133 7q11.22 68887977 68972036 84059 BAC26_L02 134 7q11.22 68891457 68991327 99870 BAC228_C20 135 7q11.22 68903883 69005715 101832 BAC8_K08 136 7q11.22 68949318 69049224 99906 BAC134_D18 137 7q11.22 69005625 69083078 77453 BAC247_N11 138 7q11.22 69065619 69168844 103225 BAC124_P19 139 7q11.22 69189537 69310307 120770 BAC149_C07 140 7q11.22 69222112 69329243 107131 BAC119_K16 141 7q11.22 69255997 69368282 112285 BAC5_I07 142 7q11.22 69258730 69354974 96244 BAC144_M09 143 7q11.22 69265620 69363324 97704 BAC36_K10 144 7q11.22 69281030 69371351 90321 BAC152_A19 145 7q11.22 69354771 69426779 72008 BAC127_B02 146 7q11.22 69367957 69460310 92353 BAC161_C16 147 7q11.22 69456694 69536435 79741 BAC121_P11 148 7q11.22 69484783 69601538 116755 BAC146_N11 149 7q11.22 69505354 69591913 86559 BAC33_D12 150 7q11.22 69620195 69783847 163652 BAC197_O10 151 7q11.22 69661519 69770910 109391 BAC219_J03 152 7q11.22 69696624 69800842 104218 BAC88_O22 153 7q11.22 69730954 69811102 80148 BAC80_D02 154 7q11.22 69758496 69863737 105241 BAC24_C16 155 7q11.22 69770808 69877770 106962 BAC13_P23 156 7q11.22 69978188 70092291 114103 BAC45_A14 157 7q11.22 69978242 70073209 94967 BAC241_B22 158 7q11.22 69984695 70170914 186219 BAC73_I10 159 7q11.22 70036420 70170938 134518 BAC67_M22 160 7q11.22 70047697 70183032 135335 BAC116_F24 161 7q11.22 70073050 70172097 99047 BAC118_I21 162 7q11.22 70073115 70160635 87520 BAC36_C22 163 7q11.22 70123932 70312645 188713 BAC38_P24 164 7q11.22 70181209 70286515 105306 BAC110_N02 165 7q11.22 70181223 70280310 99087 BAC220_A08 166 7q11.22 70303416 70392561 89145 BAC13_H20 167 7q11.22 70319739 70415660 95921 BAC175_B13 168 7q11.22 70356455 70471013 114558 BAC88_E11 169 7q11.22 70356468 70434511 78043 BAC140_A08 170 7q11.22 70384910 70471030 86120 BAC127_L05 171 7q11.22 70444120 70506602 62482 BAC150_H21 172 7q11.22 70527282 70612550 85268 BAC195_E21 173 7q11.22 70549601 70659056 109455 BAC167_H24 174 7q11.22 70559455 70645623 86168 BAC76_D15 175 7q11.22 70559526 70658999 99473 BAC192_B09 176 7q11.22 70559541 70674033 114492 BAC35_K16 177 7q11.22 70645272 70780823 135551 BAC106_C16 178 7q11.22 70645272 70774345 129073 BAC100_L06 179 7q11.22 70663949 70763379 99430 BAC125_P12 180 7q11.22 70673930 70775142 101212 BAC40_E19 181 7q11.22 70797107 70910130 113023 BAC248_E16 182 7q11.22 70803310 70876515 73205 BAC41_A17 183 7q11.22 70810148 70934423 124275 BAC84_O12 184 7q11.22 70859891 70980889 120998 BAC57_K15 185 7q11.22 70909989 71015621 105632 BAC26_B04 186 7q11.22 70955187 71066589 111402 BAC168_L23 187 7q11.22 70959661 71043294 83633 BAC33_H06 189 7q11.22 71104722 71198792 94070 BAC53_K11 190 7q11.22 71241480 71435280 193800 BAC104_O23 191 7q11.22 71266522 71380695 114173 BAC173_B21 192 7q11.22 71380529 71472255 91726 BAC73_E21 193 7q11.22 71410817 71548080 137263 BAC38_A17 194 7q11.22 71481704 71582665 100961 BAC82_A21 195 7q11.22- 71554112 71664069 109957 7q11.23 BAC127_E09 196 7q11.23 71620043 71708632 88589 BAC147_P19 197 7q11.23 71708488 71792707 84219 BAC86_I11 198 7q11.23 71849362 76272417 4423055 BAC191_H07 199 7q11.23 71863754 73792943 1929189 BAC201_A03 200 7q11.23 72064130 72156285 92155 BAC205_J04 201 7q11.23 72166745 72263182 96437 BAC208_B07 202 7q11.23 72166760 72275964 109204 BAC128_M22 203 7q11.23 72176334 72273688 97354 BAC173_M16 204 7q11.23 72184676 72281076 96400 BAC170_F12 205 7q11.23 72184724 72281015 96291 BAC117_C10 206 7q11.23 72193701 72281002 87301 BAC176_F03 207 7q11.23 72193724 72281020 87296 BAC186_C15 208 7q11.23 72202285 72290021 87736 BAC217_N14 209 7q11.23 72202285 72273685 71400 BAC143_O02 210 7q11.23 72202289 72290099 87810 BAC95_E13 211 7q11.23 72263098 72342773 79675 BAC198_K24 212 7q11.23 72447636 72472477 24841 BAC247_M06 213 7q11.23 72459549 72577616 118067 BAC143_M09 214 7q11.23 72501967 72583330 81363 BAC45_F05 215 7q11.23 72523890 72660399 136509 BAC172_C11 216 7q11.23 72577525 72675932 98407 BAC167_I04 217 7q11.23 72648003 72779145 131142 BAC142_O19 218 7q11.23 72654551 72779156 124605 BAC184_A15 219 7q11.23 72675777 72772799 97022 BAC218_M18 220 7q11.23 72687307 72773571 86264 BAC158_M12 221 7q11.23 72724729 72822397 97668 BAC69_O08 223 7q11.23 72773474 72874048 100574 BAC183_A12 224 7q11.23 73117350 73221401 104051 BAC123_D05 225 7q11.23 73121131 73201329 80198 BAC67_M07 226 7q11.23 73140091 73266423 126332 BAC128_E24 227 7q11.23 73244451 73386632 142181 BAC39_G01 228 7q11.23 73354500 73521308 166808 BAC143_M17 229 7q11.23 73392466 73521327 128861 BAC183_K06 230 7q11.23 73408419 73520437 112018 BAC158_C18 231 7q11.23 73497892 73589952 92060 BAC151_M20 232 7q11.23 73686211 73782545 96334 BAC86_K17 233 7q11.23 73686227 73809984 123757 BAC53_C18 234 7q11.23 73686284 74430267 743983 BAC131_H10 235 7q11.23 73767131 73921866 154735 BAC249_J16 236 7q11.23 73921730 74016279 94549 BAC33_P15 237 7q11.23 73921785 74013189 91404 BAC43_D03 238 7q11.23 73921800 74044547 122747 BAC214_K20 239 7q11.23 74549957 74625358 75401 BAC22_I04 240 7q11.23 74588061 74702637 114576 BAC41_K08 241 7q11.23 74621581 74725185 103604 BAC144_E01 242 7q11.23 74625275 74718398 93123 BAC229_P01 243 7q11.23 74631979 74717975 85996 BAC141_E12 245 7q11.23 74631981 74725132 93151 BAC230_N13 246 7q11.23 74658700 74754101 95401 BAC242_M21 247 7q11.23 74669114 74759508 90394 BAC34_G23 248 7q11.23 74669157 74766600 97443 BAC132_A16 249 7q11.23 74717922 74821295 103373 BAC120_N24 250 7q11.23 74754214 74838860 84646 BAC178_O12 251 7q11.23 74754219 74838868 84649 BAC2_H21 252 7q11.23 74788470 74878771 90301 BAC243_K17 253 7q11.23 74788477 74878516 90039 BAC61_P24 254 7q11.23 74838773 74946373 107600 BAC221_N02 255 7q11.23 74867469 74952024 84555 BAC180_G20 256 7q11.23 74878685 74997131 118446 BAC59_L19 257 7q11.23 74910875 74997142 86267 BAC65_N09 258 7q11.23 74914078 74997130 83052 BAC48_L04 259 7q11.23 75071319 75290438 219119 BAC171_K05 260 7q11.23 75089619 75189211 99592 BAC78_I13 261 7q11.23 75147619 75245296 97677 BAC182_I23 262 7q11.23 75191944 75330285 138341 BAC58_P18 263 7q11.23 75309825 75391206 81381 BAC234_B11 264 7q11.23 75337652 75447403 109751 BAC235_N07 265 7q11.23 75379051 75464758 85707 BAC175_J10 266 7q11.23 75482826 75594646 111820 BAC31_M21 267 7q11.23 75524436 75680271 155835 BAC238_M17 268 7q11.23 75556202 75662768 106566 BAC181_C12 269 7q11.23 75580395 75662759 82364 BAC179_H21 270 7q11.23 75580402 75680271 99869 BAC241_O09 271 7q11.23 75604228 75716244 112016 BAC89_L08 272 7q11.23 75680181 75826330 146149 BAC106_B03 273 7q11.23 75798372 75914006 115634 BAC123_J16 274 7q11.23 76032346 76121091 88745 BAC78_E10 275 7q11.23 76126457 76235798 109341 BAC72_E18 276 7q11.23 76167483 76272486 105003 BAC155_M16 278 7q11.23 76235460 76388642 153182 BAC182_E12 279 7q11.23 76235639 76332386 96747 BAC224_M13 280 7q11.23 76332297 76418638 86341 BAC81_F13 281 7q11.23 76332927 76515224 182297 BAC53_O03 282 7q11.23 76499901 76599150 99249

(16) Wolf-Hirschhorn Syndrome

Wolf-hirschhorn syndrome can be diagnosed for Karyotype deletion 4p16.3. A DNA chip for detecting Wolf-hirschhorn syndrome includes a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of genomic DNA fragment 1 to 72 of Table 18, at least one oligomer of 20 to 100 bp consecutive nucleotide within the fragment, or at least one cDNA of 100 bp to 10 kbp derived from the fragment. When at least two kinds of probes are mixed and used, the probes can be mixed in equal proportions and immobilized in a single spot. TABLE 18 Chromosomal Chromosomal location location in Human identified genome BAC DNA No. by FISH Start point End point size BAC236_H02 1 4p16.3 237802 326439 88637 BAC69_O06 2 4p16.3 326590 459634 133044 BAC221_P22 3 4p16.3 357208 438876 81668 BAC8_J14 4 4p16.3 438738 523419 84681 BAC34_F03 5 4p16.3 660907 773269 112362 BAC240_P22 6 4p16.3 773182 881269 108087 BAC8_K18 7 4p16.3 778791 908839 130048 BAC201_E04 8 4p16.3 975976 1075769 99793 BAC246_J21 9 4p16.3 1036292 1137719 101427 BAC120_B11 10 4p16.3 1099898 1204523 104625 BAC186_J20 11 4p16.3 1294037 1401323 107286 BAC139_D23 12 4p16.3 1310487 1392382 81895 BAC34_I14 13 4p16.3 1310582 1401343 90761 BAC249_I06 14 4p16.3 1502051 1616984 114933 BAC59_G04 15 4p16.3 1502108 1616993 114885 BAC144_P04 16 4p16.3 1527393 1617675 90282 BAC51_J17 17 4p16.3 1538512 1662717 124205 BAC57_K06 18 4p16.3 1538513 1616980 78467 BAC161_D24 19 4p16.3 1580196 1666779 86583 BAC120_F12 20 4p16.3 1603988 1703810 99822 BAC54_K17 21 4p16.3 1609860 1700697 90837 BAC246_B02 22 4p16.3 1666660 1749494 82834 BAC95_G12 23 4p16.3 1670782 1749551 78769 BAC50_H08 24 4p16.3 1776527 1908757 132230 BAC67_I12 25 4p16.3 1864852 1972573 107721 BAC100_E03 26 4p16.3 1870452 1987961 117509 BAC1_F06 27 4p16.3 1882624 1976908 94284 BAC135_O20 28 4p16.3 1924077 2012501 88424 BAC153_J14 29 4p16.3 2040880 2121244 80364 BAC88_O15 30 4p16.3 2052609 2150615 98006 BAC115_O12 31 4p16.3 2070582 2181127 110545 BAC180_N19 32 4p16.3 2083590 2181158 97568 BAC104_E06 33 4p16.3 2083592 2175704 92112 BAC106_G23 34 4p16.3 2098695 2175715 77020 BAC205_J02 35 4p16.3 2121159 2268093 146934 BAC67_A15 36 4p16.3 2121176 2204189 83013 BAC84_I10 37 4p16.3 2150502 2270631 120129 BAC248_G23 38 4p16.3 2204031 2284420 80389 BAC10_B17 39 4p16.3 2267979 2363306 95327 BAC243_G05 40 4p16.3 2270548 2354350 83802 BAC44_F18 41 4p16.3 2270551 2348220 77669 BAC70_K18 42 4p16.3 2308475 2449077 140602 BAC28_C01 43 4p16.3 2347639 2459649 112010 BAC197_P06 44 4p16.3 2365995 2449102 83107 BAC178_E16 45 4p16.3 2386696 2453233 66537 BAC168_P10 46 4p16.3 2665843 2791008 125165 BAC158_J15 47 4p16.3 2691131 2780498 89367 BAC94_N09 48 4p16.3 2783578 2909639 126061 BAC163_J20 49 4p16.3 2790797 2871745 80948 BAC65_E06 50 4p16.3 2790853 2917387 126534 BAC69_H12 51 4p16.3 2833237 2927038 93801 BAC57_G03 52 4p16.3 2874989 2972737 97748 BAC223_D21 53 4p16.3 2934228 3014295 80067 BAC69_H12 51 4p16.3 2833237 2927038 93801 BAC2_A11 54 4p16.3 2968579 3093901 125322 BAC104_D06 55 4p16.3 2994610 3071589 76979 BAC14_E23 56 4p16.3 2994665 3093876 99211 BAC75_B05 57 4p16.3 3026122 3133836 107714 BAC1_K04 58 4p16.3 3027988 3133840 105852 BAC45_D08 59 4p16.3 3050938 3190266 139328 BAC22_I03 60 4p16.3 3077018 3158980 81962 BAC150_H14 61 4p16.3 3158882 3244513 85631 BAC236_H20 62 4p16.3 3169307 3274343 105036 BAC194_P13 63 4p16.3 3174446 3258519 84073 BAC120_J05 64 4p16.3 3274662 3384835 110173 BAC180_H03 65 4p16.3 3320490 3397871 77381 BAC45_D09 66 4p16.3 3339121 3473278 134157 BAC103_L05 67 4p16.3 3384745 3388167 3422 BAC186_K08 68 4p16.3 3384789 3485826 101037 BAC157_K14 69 4p16.3 3396916 3505239 108323 BAC217_L15 70 4p16.3 3505011 3605672 100661 BAC250_L02 71 4p16.3 3525104 3654803 129699 BAC183_F04 72 4p16.3 3693162 3792741 99579

In another embodiment, the present invention provides a DNA microarray for detecting constitutional diseases checked pre- or post-natally. The DNA microarray is used for diagnosing target disease in before/after childbirth diagnosis, or for detecting the mutations on whole chromosome. The probe can be the genomic DNA for detecting a disease-specific region of the chromosome, or oligmer, cDNA, or RNA derived from genomic DNA. The DNA microarray includes one or several kinds of the probes for detecting the chromosomal mutation specific to disease immobilized thereon. The target chromosome region used for diagnosing the constitutional diseases can be largely selected from chromosome 13, 18, 21, X and Y. The examples of the constitutional diseases include Patau syndrome, Edwards syndrome, Turner syndrome, and Klinefelter syndrome, but do not limited thereto.

The genomic DNA microarray of the present invention can detect at least 250 bp of chromosome abnormality with a high resolution, and is very convenient compared to the conventional karyotype analysis and FISH.

The genomic DNA microarray of the present invention has advantages that the large quantity of desired genomic DNA fragments can be easily obtained according to the usage of the genomic DNA chip from the clones which have the identified chromosomal location and nucleotide sequence of inserted genomic DNA fragment. In addition, it is possible to easily detect chromosome abnormality on genome of the organism, to detect chromosome abnormality in intron region other than exon region, to suggest the relationship between specific disease and the detected chromosome, to observe the genomic mutation aspect caused by endogeneous or exogeneous factor, to provide a chip for diagnosing specific disease, and to help the research on polymorphism specific to race or human.

The genomic DNA microarray of the present invention is useful for diagnosing the disease caused by chromosomal mutation, and particularly for a disease caused by abnormality of the number of the chromosome and cancer.

The Microarray Immobilized by at Least Two Kinds of Probes in a Spot

The present invention provides a microarray immobilized by at least two kinds of probes in a spot. The mixture ratio of probe at one spot can be the same for the same kind of probe. The probes can be selected from RNA fragment, cDNA fragment, oligomer and genomic DNA fragment. At least two kinds of probes immobilized in a spot includes a nucleotide selected from the group consisting of whole chromosome, parts of chromosome, and a complementary DNA thereof showing the same phenotype in an abnormality of chromosome number, and the phenotype is a gene amplification, or a gene deletion. The genomic DNA is selected from the group consisting of the DNA 1 to 25851 as shown in Table 1, and can be RNA fragment, cDNA fragment or oligomer derived from the genomic DNA.

The Detection Method of Chromosome Abnormality with Microarray

The method of detecting chromosome abnormality according to the present invention contains the steps of:

(a) preparing a microarray for detecting chromosome abnormality;

(b) reacting sample genomic DNA in a sample which is labeled by first detectable labeling material, and the reference DNA labeled by second detectable labeling material in the same mixture ratio, with the probe immobilized on the microarray, and measuring hybridization ratio of the target genomic DNA or the reference DNA with the probe respectively; and

(c) analyzing chromosome abnormality of the target genomic DNA on the basis of the hybridization ratio.

In step (c), the chromosome abnormality is analyzed on the basis of:

No chromosome abnormality, if the hybridization ratio of the target genomic DNA is the same as that of the reference DNA is decided to produce no chromosome abnormality, Chromosome amplification, if the hybridization ratio of the target genomic DNA is higher than that of the reference DNA.

Chromosome deletion, if the hybridization ratio of the target genomic DNA is lower than that of the reference DNA.

The probe is genomic DNA fragment, oligomer, cDNA or RNA, and the examples of the genomic DNA are shown in Table 1.

The samples, tissue, cell, or body fluids which are selected from the group consisting of saliva, blood, urine, semen, and amniotic fluid, and can be isolated or separated from the sample according to the conventional method.

The first detectable labeling material and the second detectable labeling material are the same or different, for examples independently are radioactive isotope, fluorescent material, chemical luminescent, and enzyme. For examples, Cy3, Cy5, Alexa Fluor 350, Alexa Fluor 430, Alexa Fluor 488, Alexa Fluor 532, Alexa Fluor 546, Alexa Fluor 594, Alexa Fluor 658, Cyanine-3, Cyanine-5, fluorescein,

(bodipy), Texas red, FITC (Fluorescein Isothiocyanate), rhodamine, d-NTP (including d-UTP), reactive dye having amino-allyl modified dNTPs, horseradish peroxidase, biotin and etc. The method is explained in more detail as below.

Step 1: Isolation of Sample Genomic DNA

The genomic DNA is isolated from a sample according to the conventional method or known kit. The target genomic DNA is prepared at an amount of 100 ng to 1 ug.

Step 2: Labeling

The target genomic DNA and reference DNA are labeled by random priming with different labeling material. For example, the target genomic DNA is labeled with Cy3 (blue color), and the reference genomic DNA is labeled with Cy5 (red color).

Step 3: Reaction with Microarray Chip

The labeled target genomic DNA and reference genomic DNA are mixed in a weight ratio of 1:1, then reacted with microarray, and washed.

The amount of DNA mixture reacted with microarray is 200 to 2 ug. The DNA mixture can be suspended in hybridization buffer solution which includes known solution. The BAC chip can be treated with the material preventing the nonspecific hybridization, or example DNA of salmon sperm before treating with the DNA mixture.

Step 4: Analysis

The hybridization of the reacted microarray is analyzed by inserting the microarray into the scanner which can detect the labeling materials, and using the program which probe information and spot location input.

If the sample chromosome is normal, the ratio of the target DNA hybridized with the probe and reference genomic DNA is 1:1, and thus spot represents yellow color. If the sample chromosome includes chromosome amplification, the hybridization ratio of the target DNA is higher than that of the reference DNA, and thus spot represents blue color. If the sample chromosome includes chromosome deletion, the hybridization ratio of the target DNA is lower than that of the reference DNA, and thus spot represents red color. Accordingly, specific DNA amplification and deletion of the sample can be detecting by measuring the fluorescence of each spot.

Detection of the Chromosome Abnormality Specific to Disease

The present invention provides a method of detecting a disease-specific chromosome abnormality comprises the steps of:

(a) identifying a genomic DNA fragment inserted to each clone which is obtained from organism's genomic library;

(b) immobilizing the entire or a part of genomic DNA fragment identified in step (a) on a microarray;

(b) reacting the target genomic DNA of patient which is labeled by a first detectable labeling material, and a reference DNA labeled by a second detectable labeling material in the same mixture ratio, with the probe immobilized on the microarray, and measuring hybridization ratio of the target genomic DNA or the reference DNA with the probe respectively; and

(c) detecting a region and type of a chromosome abnormality of the patient by analyzing the hybridization ratio.

When the chromosome abnormality specific to a disease, and abnormal region are not identified, the method provides it to detect them easily.

In an embodiment, BAC chip can be prepared by using the BAC clone which is obtained from organism's genomic library. In this case, the BAC DNA present in the BAC chip may correspond to the whole human genome, a specific chromosome or a specific gene.

The BAC chip containing the BAC DNA corresponding to the whole human genome can be used for the following purposes.

(1) The BAC chip can be used for diagnosing the health condition and a disease associated with the chromosome abnormality by detecting chromosome abnormality in sample whole genome, when a disease is known to associate with the chromosome abnormality.

(2) The chromosome abnormality is analyzed by using DNA of patient with a specific disease as a sample DNA, in order to identify the chromosome abnormality associated with a specific disease. Thus, the target DNA can be used for diagnosing the other patient with the same disease as a probe.

(3) The BAC chip can provides a tool for analyzing chromosome abnormality caused by specific materials, for examples drugs or compounds.

(4) The BAC chip can be used for analyzing genome polymorphism by individuals or human race.

The BAC chip for a specific chromosome or gene may be used to more closely detect the chromosome abnormality at the target region.

The present invention is further explained in more detail with reference to the following examples. These examples, however, should not be interpreted as limiting the scope of the present invention in any manner.

EXAMPLE 1 Preparation of BAC Clone

1-1. Preparation of Genome Library

A genome was isolated from a Korean man, treated with HindIII enzyme and subjected to PFGE, to obtain a DNA fragment of about 100 Kb. The DNA fragment of the average size of 100 Kb was ligased to a BAC vector, and then, transformed into a host cell, E. coli. Herein, the E. coli cell line containing each DNA fragment was called as a clone, and 96,768 clones in total were obtained through the preparation of genome library as above (FIG. 1).

1-1-1. Isolation of Genome

20 Ml of the entire genomic DNA was isolated from semen of a Korean man, and subjected to a qualitative analysis and a quantitative analysis through agarose gel electrophoresis.

1-1-2. Fragmentation and Purification of Genome

The isolated genomic DNA was cleaved with BamHI, and subjected to PEG gel electrophoresis. The portion which was developed at the position of 100 Kb was collected, to isolate DNA fragments.

1-1-3. Transformation

The DNA fragments were inserted into BAC vectors (pECBAC1) at BamHI site, and transformed into host cells (Competent cell, E. coli DH10B BAC). Then, the host cells were cultivated in a solid culture media, to obtain clone of each cell. The clones were inoculated on 96-well format cell culture blot, and cultivated in a rotating incubator of 300 rpm at 370 for 18 hours.

1-1-4. Preparation of Library Cell Stock Solution

25 μl of 65% glycerol was put into 384-well plate, and 25 μl of cells cultivated in 96-well format cell culture blot was added thereto (cells cultivated in four 96-well format cell culture blots were collected and stored in one 384-well plate). The top of the 384-well was sealed and stored at −700 □.

1-2. End-Sequencing

500 bp of both ends of the 100 Kb DNA fragment were analyzed with a BAC vector specific primer, and the information for the inserted genomic DNA of each clone was confirmed and recorded.

1-2-1. Isolation of BAC DNA (Mini-Prep.)

1×LB 1 Ml was put into 96-well culture blot, and library cell stock solution 1 Ml was inoculated thereto. The cells stored in one 348-well plate were divisionally cultivated in four 96-well culture blots. The cells was cultivated in a rotating incubator of 300 rpm at 37 □ for 18 hours and, to prepare a sample stock solution in the amount of 25 Ml per a well in five times. The remnant was centrifuged at 1000 rpm for 15 minutes, to obtain cells. DNA was collected by using a kit, Montage mini-prep.

1-2-2. Sequencing

Both ends of the DNA fragment inserted into each clone was treated with T7 and M13R primers, and the base sequences thereof were analyzed by using an Automatic DNA Sequencer, ABL 3700.

1-3. Bioinformatics

The analyzed base sequences were subjected to the sequence identity analysis compared with the base sequence of the entire human genome analyzed through the human genome project using a bioinformatics technology. Through the above processes, the position of the BAC DNA in genome of each clone in which the BAC DNA is inserted and the entire base sequence thereof were determined.

1-3-1. Blast Search

A blast search was performed by using the analyzed end sequence, and its position in the genome of each clone was determined by using the sequence identity analysis.

1-3-2. Selection of Gene/Marker

Among the genomic DNA fragments of each clone obtained from genome library, the clone comprising a cancer-associated gene/STS marker was selected.

1-4. BAC Clone Mapping by FISH

In order to more exactly determine the position of each BAC clone on the genome, FISH was conducted by using the genomic DNA fragment contained in each BAC clone as a probe. In the FISH technique employing the DNA complementary binding principle, a probe which specifically binds to a specific region of a chromosome is directly bound to the chromosome fixed on a glass slide, to determine the position of the probe in the chromosome.

The position of the genomic DNA fragment of each determined BAC clone in the chromosome is shown in Table 1.

EXAMPLE 2 Fabrication of BAC Chip

2-1. Selection of Clone to be Used in Fabricating BAC Chip

1440 clones according to each chromosomal number were selected from the BAC library for the purpose of diagnosing a specific genetic disease associated with an abnormality in the chromosomal number. 1440 clones are shown in Table 19 below. TABLE 19 marker No. of No. of chromosome No. of cancer/ STS/ number BAC DNA clone gene Terminal  1 BAC176_F17, BAC38_N15, BAC101_I16, BAC230_P11, BAC37_K05, BAC171_P09, BAC90_A08, BAC180_C01, BAC91_A07, BAC80_C03, 103 20 83 BAC145_B18, BAC133_M03, BAC68_M07, BAC13_F18, BAC236_J05, BAC46_E05, BAC120_F15, BAC141_N19, BAC63_I09, BAC146_G09, BAC124_B01, BAC20_I15, BAC96_E21, BAC92_N23, BAC33_L19, BAC162_J22, BAC215_J18, BAC108_F03, BAC108_H02, BAC96_M17, BAC24_E20, BAC141_H16, BAC29_J22, BAC142_G14, BAC193_L08, BAC22_P12, BAC71_J20, BAC81_F02, BAC15_M17, BAC104_G18, BAC77_K04, BAC189_F17, BAC78_B10, BAC74_F02, BAC118_I08, BAC59_G14, BAC58_B15, BAC53_D06, BAC153_B07, BAC65_M16, BAC20_G18, BAC114_F11, BAC22_M23, BAC51_G07, BAC127_H20, BAC91_J05, BAC132_I13, BAC157_J21, BAC227_N14, BAC113_H08, BAC59_B21, BAC79_K19, BAC60_F24, BAC29_M19, BAC123_I23, BAC78_H12, BAC1_O10, BAC85_N11, BAC215_N06, BAC235_K22, BAC183_F06, BAC249_I07, BAC96_I22, BAC157_C20, BAC177_L21, BAC84_E09, BAC72_N18, BAC115_J12, BAC81_C10, BAC165_M06, BAC109_M23, BAC82_F03, BAC25_H07, BAC59_M15, BAC80_G04, BAC118_I22, BAC84_O24, BAC170_F20, BAC42_F06, BAC169_C15, BAC139_G10, BAC50_H09, BAC128_O05, BAC147_E05, BAC118_K14, BAC40_F20, BAC97_D21, BAC132_D14, BAC6_N24, BAC37_P24, BAC168_C19, BAC92_E04, BAC134_B22  2 BAC153_L04, BAC19_D07, BAC34_P10, BAC165_O21, BAC29_C11, BAC76_D18, BAC247_B10, BAC99_G21, BAC126_O17, BAC239_O18, 109 17 92 BAC167_M04, BAC64_M02, BAC146_F07, BAC37_E18, BAC176_M18, BAC97_N06, BAC252_B21, BAC137_N18, BAC175_J02, BAC90_P18, BAC166_F20, BAC145_H13, BAC32_A06, BAC143_E05, BAC143_E05, BAC52_F13, BAC118_O22, BAC120_P03, BAC43_G23, BAC65_K04, BAC142_G22, BAC122_G07, BAC209_G19, BAC15_M23, BAC12_G01, BAC140_N16, BAC10_H13, BAC145_L06, BAC83_P03, BAC165_F20, BAC92_C01, BAC23_H04, BAC144_A07, BAC69_J21, BAC125_H18, BAC185_D04, BAC120_P19, BAC103_I04, BAC96_P09, BAC24_D14, BAC65_B13, BAC82_P19, BAC20_N21, BAC83_K08, BAC167_P18, BAC92_C18, BAC169_P06, BAC63_N08, BAC219_N21, BAC50_E06, BAC64_P09, BAC232_L16, BAC39_N20, BAC106_B08, BAC203_A08, BAC143_C23, BAC80_L11, BAC27_B01, BAC1_H07, BAC61_N08, BAC183_G19, BAC2_G24, BAC80_A06, BAC143_A10, BAC16_C12, BAC84_K05, BAC13_D10, BAC12_F20, BAC68_H23, BAC157_F03, BAC108_L17, BAC96_G06, BAC69_D21, BAC131_M09, BAC80_E09, BAC73_P04, BAC169_F10, BAC11_G01, BAC106_A14, BAC84_P12, BAC51_G24, BAC52_M13, BAC53_J20, BAC142_B20, BAC189_L05, BAC57_M03, BAC232_M13, BAC175_D13, BAC116_P06, BAC31_A16, BAC26_H23, BAC92_I07, BAC123_I06, BAC75_N17, BAC168_I09, BAC72_M15, BAC40_D08, BAC15_M19, BAC131_H16  3 BAC45_F02, BAC179_L14, BAC83_J18, BAC51_F01, BAC154_G23, BAC169_O13, BAC241_P15, BAC165_K17, BAC142_N07, BAC156_D05, 92 25 67 BAC12_O03, BAC195_G14, BAC60_B02, BAC144_C11, BAC175_I18, BAC85_G09, BAC202_D18, BAC1_J07, BAC57_M07, BAC230_M11, BAC97_N23, BAC206_J21, BAC218_K17, BAC232_N06, BAC80_H11, BAC233_H20, BAC201_F16, BAC241_O06, BAC220_H15, BAC82_N23, BAC209_K05, BAC117_E10, BAC167_G07, BAC237_F09, BAC24_K03 BAC107_H04, BAC8_G11, BAC73_M11, BAC109_M19, BAC162_A19, BAC26_E03, BAC37_G21, BAC170_J09, BAC30_D18, BAC40_O18, BAC189_J06, BAC131_I23, BAC150_J01, BAC71_P12, BAC71_C14, BAC152_C16, BAC22_O17, BAC77_F10, BAC13_P22, BAC89_H07, BAC106_M21, BAC125_G19, BAC82_M18, BAC247_C06, BAC199_J09, BAC156_P13, BAC26_P08, BAC58_N16, BAC128_C03, BAC177_G04, BAC155_H02, BAC129_C01, BAC23_N18, BAC96_G23, BAC133_H24, BAC25_B02, BAC173_F07, BAC22_K22, BAC27_D22, BAC78_P09, BAC215_M07, BAC28_H10, BAC97_L20, BAC143_K08, BAC87_K21, BAC46_F17, BAC178_H09, BAC144_B04, BAC97_O04, BAC195_F06, BAC213_I18, BAC144_N20, BAC74_E06, BAC119_D15, BAC173_O07, BAC61_O10, BAC243_N21  4 BAC120_B11, BAC192_N22, BAC50_H08, BAC67_I12, BAC163_J20, BAC139_E10, BAC100_B07, BAC75_N19, BAC193_F03, BAC21_I15, 63 14 49 BAC12_K01, BAC41_K05, BAC84_I22, BAC168_J10, BAC33_M04, BAC42_P11, BAC165_H02, BAC75_G11, BAC214_I01, BAC100_O09, BAC78_K15, BAC179_A18, BAC139_N16, BAC1_C16, BAC102_F24, BAC157_D13, BAC193_O16, BAC54_J04, BAC1_I15, BAC78_N01, BAC30_I03, BAC10_A09, BAC27_J08, BAC95_P20, BAC229_P17, BAC34_N19, BAC83_F06, BAC221_K14, BAC247_H12, BAC161_L08, BAC232_P08, BAC63_P04, BAC121_P19, BAC67_B03, BAC168_J03, BAC69_L20, BAC69_L20, BAC144_H01, BAC5_D24, BAC1_P14, BAC140_G19, BAC233_I20, BAC186_J15, BAC89_D11, BAC169_F02, BAC162_P10, BAC92_B05, BAC152_C21, BAC83_J21, BAC143_I10, BAC84_P22, BAC56_F05, BAC158_A23  5 BAC63_F14, BAC143_B15, BAC104_G21, BAC179_F12, BAC84_C03, BAC135_L06, BAC116_I11, BAC237_J04, BAC41_O16, BAC152_H04, 73 17 56 BAC100_E07, BAC209_I22, BAC109_H04, BAC83_M16, BAC161_K04, BAC241_H11, BAC16_L22, BAC230_O24, BAC69_A02, BAC185_O16, BAC171_A01, BAC135_P04, BAC144_P08, BAC140_C04, BAC8_P07, BAC166_A05, BAC154_I09, BAC119_I19, BAC96_B13, BAC12_E06, BAC12_E06, BAC25_M19, BAC12_H03, BAC237_N24, BAC13_G12, BAC147_D19, BAC83_I19, BAC178_H02, BAC104_D13, BAC152_J19, BAC45_L07, BAC126_A01, BAC179_F17, BAC168_M02, BAC161_C19, BAC5_I04, BAC53_A02, BAC222_P07, BAC141_I18, BAC211_D16, BAC140_H19, BAC161_A19, BAC89_H06, BAC59_N13, BAC116_I13, BAC167_K06, BAC175_L19, BAC143_A21, BAC200_J07, BAC83_D21, BAC123_K15, BAC176_G19, BAC57_G23, BAC196_J01, BAC111_D04, BAC176_E04, BAC89_H17, BAC131_C11, BAC88_D19, BAC153_I06, BAC68_H03, BAC76_C20, BAC53_P23  6 BAC178_M23, BAC80_J07, BAC14_E06, BAC86_N04, BAC86_G12, BAC132_J18, BAC183_J04, BAC155_N23, BAC2_J04, BAC247_M13, 81 21 60 BAC97_H14, BAC33_F13, BAC113_K09, BAC147_A07, BAC144_D21, BAC40_N06, BAC131_E23, BAC249_P17, BAC56_M01, BAC157_G20, BAC219_C01, BAC104_F07, BAC100_M24, BAC97_I22, BAC97_H10, BAC134_F04, BAC90_M07, BAC116_P17, BAC92_I06, BAC171_B22, BAC52_H13, BAC57_A01, BAC92_M03, BAC135_A14, BAC236_A07, BAC183_P10, BAC189_K20, BAC174_C09, BAC139_M20, BAC162_J19, BAC162_J19, BAC71_N14, BAC81_H13, BAC133_M12, BAC120_A16, BAC76_A23, BAC162_D08, BAC81_G12, BAC86_L20, BAC115_D12, BAC143_P17, BAC31_M14, BAC167_F05, BAC97_H04, BAC154_I05, BAC246_A19, BAC39_M24, BAC103_P05, BAC80_O04, BAC22_E09, BAC228_A01, BAC83_D24, BAC1_F23, BAC129_J17, BAC90_H10, BAC236_B24, BAC113_O10, BAC68_C07, BAC39_N24, BAC160_I11, BAC129_A04, BAC14_M20, BAC92_E13, BAC53_E01, BAC52_C20, BAC152_N22, BAC200_M04, BAC147_C16, BAC19_O23, BAC121_P18, BAC12_F16,  7 BAC39_K09, BAC161_M22, BAC100_K13, BAC139_D05, BAC127_G14, BAC65_K10, BAC62_J14, BAC62_N06, BAC112_K01, BAC199_B07, 83 14 69 BAC131_G08, BAC31_C02, BAC218_N01, BAC139_K10, BAC100_E09, BAC161_H20, BAC161_H20, BAC75_J03, BAC89_K07, BAC24_A20, BAC122_F23, BAC5_A09, BAC71_J10, BAC151_A17, BAC34_E12, BAC46_P02, BAC34_L05, BAC221_F17, BAC193_I24, BAC25_N13, BAC80_I11, BAC15_B08, BAC1_I06, BAC85_D22, BAC217_M14, BAC61_A07, BAC57_L05, BAC145_L15, BAC100_L06, BAC78_I13, BAC226_J16, BAC1_P18, BAC186_B10, BAC29_K23, BAC105_F06, BAC3_J18, BAC169_J07, BAC185_E15, BAC26_C02, BAC42_D19, BAC144_G04, BAC109_M06, BAC96_K03, BAC76_I16, BAC144_C20, BAC100_N11, BAC232_P13, BAC1_B12, BAC202_P14, BAC83_N01, BAC147_C10, BAC85_H06, BAC127_C14, BAC237_O10, BAC195_F16, BAC30_F19, BAC67_N20, BAC142_H10, BAC238_G23, BAC32_O17, BAC79_G17, BAC125_H09, BAC221_K10, BAC33_O07, BAC120_E18, BAC175_L18, BAC80_H22, BAC124_O22, BAC140_I02, BAC15_O23, BAC171_D10, BAC96_C15, BAC82_L19  8 BAC218_F21, BAC78_A19, BAC46_E24, BAC1_J24, BAC90_M06, BAC145_N24, BAC144_F08, BAC27_O21, BAC31_D08, BAC176_L07, 53 14 39 BAC51_G11, BAC97_F20, BAC117_I18, BAC74_F23, BAC11_C18, BAC15_F07, BAC76_E16, BAC168_N13, BAC247_M21, BAC155_D08, BAC19_P21, BAC145_H17, BAC78_O16, BAC106_L05, BAC152_G16, BAC50_F01, BAC36_H08, BAC177_N09, BAC217_O23, BAC178_P02, BAC57_O15, BAC37_H09, BAC90_P15, BAC92_K10, BAC157_F12, BAC55_M03, BAC169_B05, BAC20_K18, BAC176_H16, BAC199_P22, BAC200_E17, BAC248_F14, BAC192_N08, BAC53_L17, BAC195_N23, BAC100_A11, BAC113_P08, BAC8_N14, BAC139_M03, BAC90_C04, BAC76_N02, BAC145_J12, BAC193_J11  9 BAC22_E06, BAC44_B22, BAC75_D17, BAC133_K20, BAC71_J11, BAC139_H09, BAC59_H01, BAC49_B18, BAC160_C10, BAC88_P21, 56 15 41 BAC27_C20, BAC86_G04, BAC20_M12, BAC131_N18, BAC125_M17, BAC135_G04, BAC185_C04, BAC33_J02, BAC70_O18, BAC84_K23, BAC104_M09, BAC40_J09, BAC84_F11, BAC42_K01, BAC91_J21, BAC6_B03, BAC84_E19, BAC165_B09, BAC90_K21, BAC37_F17, BAC26_C01, BAC10_P08, BAC57_M21, BAC221_I19, BAC100_N15, BAC97_K18, BAC165_P10, BAC90_A22, BAC106_J20, BAC20_C01, BAC96_N01, BAC157_D19, BAC130_H19, BAC63_L05, BAC193_F12, BAC65_E14, BAC118_A06, BAC142_B18, BAC125_M06, BAC108_J10, BAC142_E13, BAC233_P12, BAC110_G13, BAC4_J24, BAC224_C15, BAC176_M06 10 BAC70_M18, BAC176_J17, BAC143_B19, BAC143_G07, BAC198_H13, BAC56_M02, BAC243_L13, BAC145_N12, BAC82_K06, BAC145_P22, 69 21 47 BAC250_J11, BAC25_H08, BAC15_O16, BAC142_K07, BAC142_J05, BAC144_N08, BAC175_I06, BAC90_D13, BAC21_L23, BAC116_L03, BAC155_H03, BAC81_M04, BAC51_G06, BAC140_E20, BAC193_I07, BAC193_A18, BAC4_P01, BAC169_F05, BAC83_F04, BAC144_M14, BAC24_E16, BAC178_D22, BAC90_G04, BAC117_P03, BAC64_K18, BAC110_F03, BAC145_F01, BAC142_J19, BAC84_A21, BAC106_B16, BAC41_E05, BAC56_I15, BAC86_I06, BAC15_P02, BAC222_E18, BAC244_H22, BAC152_K02, BAC155_M23, BAC62_C09, BAC82_E10, BAC81_O02, BAC186_N19, BAC165_N05, BAC252_B16, BAC81_O19, BAC218_E11, BAC154_E03, BAC4_G24, BAC82_K12, BAC245_F15, BAC223_O05, BAC48_I12, BAC100_I08, BAC97_D05, BAC167_G16, BAC9_B16, BAC92_D03, BAC42_H14 11 BAC165_D01, BAC121_J14, BAC252_K02, BAC60_J23, BAC193_P15, BAC121_J11, BAC91_J13, BAC219_F22, BAC96_J11, BAC185_G10, 73 31 42 BAC32_K13, BAC195_A16, BAC252_G23, BAC88_B15, BAC82_C10, BAC82_C10, BAC35_I01, BAC90_G07, BAC117_D15, BAC1_K02, BAC163_D07, BAC65_I22, BAC112_A18, BAC161_E20, BAC12_F24, BAC222_A06, BAC19_L09, BAC97_I05, BAC248_P18, BAC12_H05, BAC167_H05, BAC33_M02, BAC59_H09, BAC50_K14, BAC101_B24, BAC197_D09, BAC195_K21, BAC228_L09, BAC185_L04, BAC122_I18, BAC192_C22, BAC128_J04, BAC149_E07, BAC241_H14, BAC220_G02, BAC39_F05, BAC75_E17, BAC241_C13, BAC96_G07, BAC116_D07, BAC222_F09, BAC144_K18, BAC38_N11, BAC184_B04, BAC153_K19, BAC100_H09, BAC12_L24, BAC44_C18, BAC120_O18, BAC33_D18, BAC185_E02, BAC75_I11, BAC183_F14, BAC145_H08, BAC64_I15, BAC158_L17, BAC141_J03, BAC91_K14, BAC72_F10, BAC250_C10, BAC121_O09, BAC21_O18, BAC173_G12 12 BAC155_L08, BAC252_M17, BAC73_O21, BAC36_D21, BAC115_B18, BAC13_A13, BAC90_L22, BAC188_D23, BAC34_J07, BAC157_O02, 57 19 38 BAC25_K04, BAC174_C05, BAC88_B12, BAC140_E24, BAC107_B02, BAC168_P16, BAC69_O13, BAC121_J23, BAC247_C10, BAC42_L03, BAC143_H17, BAC76_B24, BAC1_B14, BAC54_H10, BAC217_M07, BAC127_P09, BAC41_I18, BAC115_I13, BAC196_D16, BAC209_C17, BAC108_G22, BAC46_N17, BAC10_M07, BAC65_E02, BAC232_J22, BAC234_L21, BAC154_D12, BAC97_B21, BAC59_C14, BAC234_E19, BAC221_N20, BAC84_C20, BAC13_H06, BAC1_M18, BAC164_J21, BAC140_P13, BAC22_C06, BAC176_A04, BAC28_J11, BAC82_A13, BAC168_A15, BAC8_N02, BAC162_L24, BAC142_E09, BAC71_K16, BAC22_N22, BAC136_E22 13 BAC199_L02, BAC77_M02, BAC171_B19, BAC91_O18, BAC158_N18, BAC142_B19, BAC157_J18, BAC43_L23, BAC29_D09, BAC88_K22, 42 11 31 BAC147_I15, BAC80_F19, BAC101_E02, BAC122_P16, BAC181_L23, BAC235_D20, BAC66_B10, BAC92_J05, BAC27_O11, BAC29_C16, BAC175_N19, BAC63_I22, BAC51_L06, BAC168_M20, BAC117_L08, BAC96_N17, BAC154_E21, BAC60_F12, BAC145_C09, BAC97_A19, BAC29_K13, BAC166_A03, BAC84_E11, BAC143_B05, BAC73_O17, BAC155_B10, BAC233_L22, BAC193_H21, BAC41_E02, BAC123_J22, BAC96_A02, BAC232_G07, 14 BAC12_N17, BAC239_I12, BAC72_L13, BAC59_O07, BAC1_O24, BAC222_N17, BAC157_P13, BAC162_N24, BAC96_D15, BAC90_M15, BAC237_C10, 44 12 32 BAC143_A23, BAC72_P15, BAC25_M16, BAC80_J19, BAC96_P02, BAC58_J08, BAC100_O07, BAC33_I21, BAC119_F08, BAC57_M11, BAC97_I21, BAC102_L12, BAC65_N03, BAC145_C03, BAC248_M08, BAC233_P09, BAC175_D05, BAC11_N10, BAC22_P14, BAC81_E17, BAC100_B22, BAC215_G20, BAC97_N03, BAC36_J22, BAC115_N23, BAC88_C21, BAC26_I17, BAC142_N17, BAC166_E01, BAC27_E18, BAC232_G16, BAC69_K17, BAC13_B06 15 BAC220_P13, BAC88_I16, BAC91_O02, BAC182_D23, BAC59_F17, BAC19_L10, BAC242_O02, BAC127_N19, BAC170_H09, BAC197_N21, 40 12 28 BAC182_L10, BAC83_E21, BAC23_H19, BAC49_P16, BAC161_M10, BAC91_O04, BAC100_H20, BAC66_J01, BAC40_C05, BAC68_C12, BAC187_A04, BAC222_P21, BAC236_E23, BAC142_K19, BAC57_A19, BAC176_G02, BAC37_B13, BAC84_I01, BAC106_B15, BAC147_N01, BAC138_F17, BAC197_J09, BAC81_K22, BAC10_E08, BAC128_O24, BAC102_M10, BAC231_E18, BAC11_J18, BAC120_J06, BAC8_I18 16 BAC184_K14, BAC142_G12, BAC252_I22, BAC59_B08, BAC60_M03, BAC49_J01, BAC100_H02, BAC20_K17, BAC68_B16, BAC97_C21, 36 8 28 BAC152_G18, BAC31_G15, BAC246_C01, BAC51_A24, BAC191_F16, BAC62_C07, BAC59_L05, BAC171_P05, BAC153_M14, BAC36_L03, BAC145_A03, BAC153_E19, BAC96_G02, BAC137_J20, BAC144_N12, BAC61_H22, BAC53_H20, BAC61_N20, BAC120_I17, BAC84_E07, BAC200_K17, BAC170_D16, BAC96_I21, BAC54_O09, BAC101_G17, BAC72_M12 17 BAC132_D18, BAC49_N19, BAC122_B18, BAC73_C22, BAC155_O16, BAC106_L03, BAC195_B24, BAC88_C08, BAC1_L24, BAC224_E11, 58 22 36 BAC59_B19, BAC140_N23, BAC36_P09, BAC132_L20, BAC90_H16, BAC10_I20, BAC132_O07, BAC244_N11, BAC97_C05, BAC57_D07, BAC137_H11, BAC221_C05, BAC107_E15, BAC57_O05, BAC8_J15, BAC57_B10, BAC91_E18, BAC157_E20, BAC106_G05, BAC217_J07, BAC68_N12, BAC84_G20, BAC195_G10, BAC65_F13, BAC128_M18, BAC130_L05, BAC211_I10, BAC163_I15, BAC193_O02, BAC84_D23, BAC144_M06, BAC81_K18, BAC40_M12, BAC42_E17, BAC131_P23, BAC48_F01, BAC133_G08, BAC66_I09, BAC88_D15, BAC153_M16, BAC56_P20, BAC38_O07, BAC60_H19, BAC48_H06, BAC59_E12, BAC171_D05, BAC36_L05, BAC82_B17 18 BAC43_M02, BAC72_K17, BAC191_N20, BAC106_H08, BAC34_E05, BAC30_E07, BAC167_F11, BAC86_A18, BAC210_D05, BAC127_L04, 33 11 22 BAC131_F03, BAC86_N24, BAC19_B03, BAC171_I13, BAC111_I02, BAC241_H18, BAC1_E24, BAC144_H12, BAC120_C22, BAC251_G19, BAC248_E22, BAC71_L11, BAC1_O22, BAC78_M19, BAC63_E12, BAC93_C13, BAC190_E09, BAC39_C18, BAC96_D20, BAC196_P15, BAC97_B02, BAC51_E18, BAC92_P18 19 BAC75_B14, BAC37_C21, BAC65_N13, BAC33_L13, BAC15_C01, BAC110_G12, BAC57_D10, BAC78_A24, BAC24_P10, BAC242_P14, 38 17 21 BAC193_N03, BAC96_L08, BAC50_B05, BAC131_D05, BAC232_P18, BAC63_L12, BAC246_J06, BAC192_L06, BAC195_K16, BAC144_L05, BAC90_H02, BAC162_E14, BAC162_K04, BAC146_F01, BAC162_J04, BAC249_F13, BAC239_N12, BAC183_D06, BAC78_D10, BAC233_C05, BAC30_K23, BAC168_H24, BAC130_J22, BAC165_O12, BAC53_O15, BAC168_E17, BAC223_A15, BAC48_A12 20 BAC40_E05, BAC109_E03, BAC127_K22, BAC85_D15, BAC155_K05, BAC143_E21, BAC86_O12, BAC247_K09, BAC165_M10, BAC86_O11, 39 6 33 BAC81_M07, BAC81_K08, BAC29_A11, BAC132_A05, BAC96_K10, BAC44_G02, BAC75_H16, BAC63_I12, BAC110_E03, BAC36_M13, BAC204_A05, BAC183_P06, BAC140_D09, BAC43_F22, BAC239_E02, BAC97_K09, BAC21_G16, BAC52_H17, BAC177_F04, BAC75_I24, BAC12_K18, BAC193_H13, BAC72_N10, BAC51_F06, BAC97_O05, BAC63_G09, BAC142_K22, BAC42_C03, BAC90_N02 21 BAC29_L21, BAC190_J11, BAC183_C22, BAC100_H22, BAC65_O07, BAC249_C23, BAC36_D16, BAC84_O06, BAC11_L10, BAC63_J12, 40 6 34 BAC155_L05, BAC203_B21, BAC182_I05, BAC56_C18, BAC82_F19, BAC65_N02, BAC117_H13, BAC166_I08, BAC203_M13, BAC165_I10, BAC8_G15, BAC213_C09, BAC141_F01, BAC42_O16, BAC88_N19, BAC88_N19, BAC109_E20, BAC37_M17, BAC145_K01, BAC46_A15, BAC8_N04, BAC96_C04, BAC1_C02, BAC155_O07, BAC80_E04, BAC136_D13, BAC209_K24, BAC207_B17, BAC88_N11, BAC147_A13 22 BAC185_A10, BAC173_K08, BAC82_N03, BAC73_G13, BAC45_L11, BAC135_D20, BAC235_E11, BAC122_J17, BAC209_P14, 50 14 35 BAC170_F13, BAC193_N18, BAC96_M16, BAC199_I14, BAC40_G01, BAC12_F19, BAC161_N14, BAC143_A19, BAC229_K08, BAC1_K13, BAC191_G18, BAC117_O16, BAC37_J03, BAC219_K02, BAC103_G23, BAC140_B15, BAC196_J04, BAC90_G19, BAC19_A04, BAC19_A04, BAC131_H09, BAC240_E16, BAC25_B14, BAC15_I17, BAC190_O21, BAC161_F18, BAC200_M11, BAC33_J12, BAC154_K23, BAC180_G12, BAC143_E09, BAC59_J18, BAC145_D16, BAC238_J21, BAC122_O04, BAC189_F08, BAC78_L06, BAC131_L06, BAC73_C03, BAC33_J04, BAC248_E20 X BAC32_O13, BAC153_J20, BAC143_P20, BAC166_K19, BAC72_G18, BAC161_F20, BAC122_M06, BAC16_E18, BAC180_G08, 92 38 54 BAC43_L14, BAC230_I10, BAC96_B05, BAC89_J08, BAC62_H18, BAC46_K11, BAC120_N07, BAC63_K16, BAC118_L05, BAC63_O15, BAC46_M08, BAC117_O07, BAC131_J03, BAC139_J06, BAC26_B20, BAC7_O11, BAC176_A16, BAC128_N06, BAC39_M13, BAC128_N09, BAC122_O17, BAC31_P15, BAC39_H16, BAC247_M15, BAC24_I13, BAC141_P21, BAC59_K08, BAC103_A22, BAC62_N08, BAC178_B15, BAC23_O07, BAC142_O01, BAC182_P03, BAC110_I17, BAC179_M02, BAC170_L05, BAC20_K10, BAC76_H11, BAC211_I16, BAC6_B17, BAC57_E05, BAC209_I17, BAC43_D09, BAC141_P03, BAC56_M03, BAC200_I13, BAC55_G15, BAC58_E08, BAC41_C23, BAC165_P14, BAC51_H24, BAC85_A21, BAC176_E20, BAC247_N09, BAC69_N21, BAC31_O21, BAC247_B11, BAC247_B11, BAC21_J11, BAC122_G10, BAC170_L14, BAC214_M20, BAC36_B11, BAC41_L18, BAC14_M14, BAC233_N08, BAC77_O23, BAC29_D20, BAC61_I07, BAC166_J20, BAC139_D06, BAC55_F19, BAC139_P13, BAC139_P13, BAC43_D10, BAC90_L23, BAC154_L24, BAC31_I13, BAC27_B24, BAC123_P03, BAC170_P07, BAC171_F11, BAC154_P04 Y BAC202_C09, BAC52_L18, BAC158_N08, BAC10_I08, BAC58_H14, BAC94_F15, BAC36_J10, BAC126_D02, BAC220_P01, BAC80_J09, 17 7 10 BAC60_N12, BAC147_N13, BAC37_G04, BAC132_A12, BAC170_J12, BAC41_I24, BAC194_K10 total 1440 392 1048 No.

The position of each of 1440 genomic DNA fragments in chromosome and the size thereof are shown in Table 20 below and FIG. 2 a-h. TABLE 20 No. of genomic DNA frament Size of genomic DNA Region corresponding No. of chromosome size (Mbp) used in BAC chip fragment (Mbp) to the chromosome (%)  1 246 103 0.1 4.2  2 243 110 0.1 4.5  3 199 92 0.1 4.6  4 191 64 0.1 3.4  5 181 73 0.1 4.0  6 170 81 0.1 4.8  7 158 83 0.1 5.3  8 146 52 0.1 3.6  9 136 66 0.1 4.9 10 135 68 0.1 5.0 11 134 73 0.1 5.4 12 132 56 0.1 4.1 13 113 42 0.1 3.7 14 105 43 0.1 4.1 15 100 39 0.1 3.9 16 90 36 0.1 4.0 17 81 57 0.1 7.0 18 76 33 0.1 4.3 19 63 38 0.1 6.0 20 63 39 0.1 6.2 21 46 40 0.1 8.7 22 49 50 0.1 10.2 X 153 92 0.1 6.0 Y 50 17 0.1 3.4 total 3060 1440 0.1 (mean) 4.7 (mean)

2-2. Isolation of Genomic DNA Fragment from Clone

2 μl of each BAC clone stock solution was inoculated in 85 Ml of 1×LB (DIFCO, Cat. No 244620) containing 400 μl of chloramphenicol solution (100% alcohol 100 Ml+chloramphenicol 340 mg). The reaction product is subjected to a rotating culture at 250 rpm under 37 □ for 15 hours, and a centrifugation at 6,000 rpm under 4 □ for 5 minutes, to obtain pellet. Then, a DNA was isolated by using QUIAGEN-tip 100 (QIAGEN plasmid midi kit).

Among 1 Ml of the BAC DNA, 850 μl was subjected to a ultrasonic fragmentation to be used as a spotting DNA, 3 μl was used for agarose gel electrophoresis. 20 μl of a part of randomly selected BAC DNAs was used for PFG (Pulse field gel electrophoresis) test.

2-2-1. Agarose Gel Electrophoresis

In order to confirm the isolated BAC DNA, 3 μl of BAC DNA dissolved in distilled water was treated and reacted with Not I restriction enzyme, and developed through 0.85% agarose gel. The developing profile was determined, to isolate a BAC DNA containing the genomic DNA fragment.

2-2-2. PFG Electrophoresis (CHEFF 162-00133, BIO-RAD)

Among 48 BAC clones which are a single isolation unit of a BAC DNA, 6 BAC clones were randomly selected, to be subjected to PFG electrophoresis. Even if among the 6 BAC clones, only one is poor, a new single isolation unit of 48 BAC clones was isolated again.

2-3. Spotting

The genomic DNA fragments obtained from 1440 clones were spotted on a microarray. In the present example, 12 subarrays as shown in FIG. 3 were employed, wherein each subarray includes 360 (30×12) spots. The same genomic DNA fragment was spotted three times in horizontal direction. That is, 120 kinds of the different genomic DNA fragments are spotted in one subarray, and thus, 1440 kinds of different genomic DNA fragments are present in 12 subarrays. The number of the genomic DNA fragment spotted on each subarray and the target chromosome numbers are shown in Table 21 below and FIG. 4 a-f. TABLE 21 No. of No of subarray chromosome 1 2 3 4 5 6 7 8 9 10 11 12 sum 1 9 6 11 11 5 5 10 13 9 7 9 8 103 2 9 11 9 8 4 5 13 5 11 9 13 12 109 3 5 6 5 10 10 12 11 8 7 7 8 3 92 4 4 7 3 3 3 4 6 6 6 8 8 5 63 5 2 4 7 10 7 5 7 3 7 10 8 3 73 6 7 5 12 6 5 7 5 5 8 9 7 5 81 7 9 8 5 7 5 8 8 7 5 10 5 6 84 8 6 3 5 2 3 4 5 7 4 5 6 3 53 9 4 0 6 5 1 3 8 8 8 5 6 2 56 10 6 8 4 2 7 8 3 5 7 10 5 3 68 11 7 4 9 5 8 11 4 5 4 3 6 7 72 12 6 1 4 4 5 5 7 8 3 6 4 4 57 13 2 1 2 5 2 2 2 6 7 3 6 4 42 14 5 3 2 2 1 7 4 3 6 3 3 5 44 15 4 1 2 2 4 5 3 4 6 3 4 2 40 16 0 2 1 4 2 2 1 5 5 3 2 9 36 17 5 9 5 4 5 2 1 5 2 3 5 11 57 18 1 3 4 2 3 3 5 3 4 1 2 2 33 19 1 5 1 6 4 7 1 1 1 2 1 8 38 20 4 9 3 3 4 2 1 1 4 2 1 5 39 21 5 6 5 4 7 1 1 0 3 0 4 4 40 22 7 5 5 7 13 6 2 0 2 2 0 1 50 X 7 8 4 3 7 3 6 6 0 5 5 4 58 Y 1 2 0 4 2 0 3 2 1 0 0 2 17 sum 120 120 120 120 120 120 120 120 120 120 120 120 1440

2-3-1. Preparation of Sample

The BAC DNA solution was centrifuged at 12,000 rpm for 10 minutes, and then, the supernatant 850 μl was collected, and performed by sonication under the following conditions:

Conditions for the Sonication

Time: 5 sec., Temperature: 25 □, Pulse: 0.1/0.1

1440 BAC DNAs performed by sonication were subjected to 1% agarose gel electrophoresis, to confirm that the ultrasonic lysis has been properly accomplished. The ultrasonically lysed DNA is placed at the position ranged from 0.5 Kb to 10 Kb. The BAC DNA solution was concentrated/dried in SpeedVAC (SAVANT, AES2010-220), and dissolved in distilled water 45 μl, to determine the viscosity. The ultrasonic lysis was repeatedly performed for the samples having the high viscosity. Then, a dropping solution (100% DMSO, 1.2 ug/μl nitrocellulose) 45 μl was added thereto and transferred to 384 plate (30 μl per a well). Blank wells were filled with 50% DMSO 30 μl.

The prepared sample may be stored at −70 □ when the storage period is one month or longer. Otherwise, when the storage period is shorter than one month, the sample may be stored at −20 □. The stored sample is defrosted and subjected to spindown at 2000 rpm before being used.

2-3-2. Preparation of Substrate

A glass substrate in the size of 25 mm×75 mm×1 mm was prepared. The glass substrate was treated with amino-silane.

2-3-3. Spotting

5-10 pg was spotted per one spot on the substrate using GeneMachine MicroGrid 100. The value of the nitrogen cylinder was 103.4 kPa to 137.9 kPa, the pressure was maintained between 74.5 kPa and 101.6 kPa by using a vacuum pump.

EXPERIMENTAL EXAMPLE 1 Analysis of Abnormality of Chromosome Number

Specimen cells were collected from the patients suffering with Down's syndrome, Edwards syndrome, Patau syndrome, Turner syndrome and Klinefelter syndrome, and reacted on BAC chip of EXAMPLE 2.

[Procedure]

1. Isolation of Genomic DNA

500 ng of sample DNA was obtained from blood using commercially available Puregene DNA isolation Kit (Gentra, Cat. No D5500A). A reference sample was obtained by performing the same method for reference cells.

2. Probe Labeling

Each of the specimen and the reference samples was labeled with Cy3 (Cy3-dCTP)

Cy5 (Cy5-dCTP), respectively, using random priming, and purified by using Purification Kit (QIAGEN).

1) Labeling

(1) DNA (specimen or reference sample) 21 ul (500 ng) was added into a tube, and 2.5× random reaction buffer 20 ul was further added thereto.

(2) The tube was heated on a heating block at 100 □ for 5 minutes, and left on ice for 5 minutes immediately after heating.

(3) After spindown, 2 mM dNTP solution 5 ul was added into each tube [preparation of 2 mM dNTP solution: sufficiently mixing 100 mM dATP (20 ul), dGTP (20 ul), dTTP (20 ul) and dCTP (10 ul) with TE 30 ul].

(4) Cy3 3 ul was added to the specimen sample, and Cy5 3 ul was added to the reference sample.

(5) Klenow fragment 1.2 ul was added to each sample.

(6) The samples was pipetted, equally mixed, spindowned, and then, reacted in an incubator at 37 □.

2) Purification Using Spin Column (Qiagen, Qiaquick PCR Purification Kit)

(1) 250 ul of PB (binding buffer) was added to 50 ul of the reaction solution obtained, and then, dropped into the prepared spin column.

(2) The spin column was centrifuged at 13,200 rpm for 90 seconds.

(3) 750 ul of PE (washing buffer) was added into the spin column.

(4) The spin column was centrifuged at 13,200 rpm for 90 seconds.

(5) The solution collected in 2 ml tube was poured out.

(6) Further centrifugation was conducted.

(7) 50 ul of EB (eluding buffer) was dropped into the spin column, and left at the room temperature for 3 minutes.

(8) The spin column was centrifuged at 13,200 rpm for 90 seconds.

(9) 50 ul of EB was dropped into the column, and left at the room temperature for 3 minutes.

(10) The spin column was centrifuged at 13,200 rpm for 90 seconds.

3) Ethanol Precipitation

(1) Sample DNA (Cy3 labeling) 80 ul, reference DNA (Cy5 labeling) 80 ul, Cot I DNA 30 ul, 20 ul of 3M sodium citrate and cold 100% ethanol 500 ul were mixed.

(2) The admixture was left at −20 □ for 60 minutes.

(3) The reaction product was centrifuged at 13,000 rpm under 4 □ for 20 minutes.

(4) Violet precipitate was obtained after the centrifugation. The supernatant was poured out.

(5) Cold 70% ethanol 500 ul was mixed with the remaining precipitate, and then, the admixture was centrifuged at 13,000 rpm under 4 □ for 10 minutes.

(6) The supernatant was poured out, and a spindown was performed. Then, the remaining ethanol was removed by using pipette.

(7) The product obtained was left in a darkroom for 10 minutes.

(8) To the precipitate obtained, an 44 ul of array hybridizing solution and 4 ul of yeast tRNA solution were added. When the solution was left in a darkroom for 30 minutes or longer, the precipitate was dissolved and the solution became violet-colored. The solution was used for examining a probe.

4. Hybridization Reaction

BAC chip Preprocessing

(1) The upside and the downside of the BAC chip were marked with a diamond pen.

(2) Salmon sperm DNA 10 uL was added to a hybridizing solution 30 uL.

(3) The admixture was denatured on a heat block at 70 □ for 10 minutes, and then, put in ice for 5 minutes.

(4) The admixture 40 uL was loaded on the BAC chip. The chip was put in a wet slide box and left for 30 minutes.

(5) The BAC chip was immersed in triple-distilled water and washed twice.

(6) The BAC chip was washed with isopropanol, centrifuged at 550 rpm for 5 minutes, and the slide was dried.

Hybridization

(1) The violet-colored probe test solution 44 ul was denatured on the heat block at 70 □ for 15 minutes, and then, reacted on the BAC chip.

(2) The chip was left in the incubator at 37 □ for 1 hour.

(3) A hybridizing solution was loaded thereon.

(4) The chip was covered with a cover glass in the size of 20×40 mm.

(5) The chip was put in the slide box, and the slide box was put on a shker of about 5 rpm. The hybridization was conducted in the incubator wherein the constant conditions of the temperature of 37 □ and the humidity of 100% for 48-72 hours.

Washing

(1) The BAC chip was washed with the solution (pH7.3) of 46 □ containing for 15 minutes.

(2) The chip was washed with the solution of 46 □ containing 2×SSC and 0.1% SDS for 30 minutes.

(3) Another washing step was performed by using PN buffer [100 mL of mixed solution (pH 8.0) containing 0.2M Na₂HPO₄ (pH 9.0) and 0.2M NaH₂PO₄ (pH 4.3), 100 mL of distilled water and 200 uL NP40 at the room temperature for 15 minutes.

(4) The chip was washed with 2×SSC at the room temperature for 5 minutes.

(5) The chip was washed with 70%, 85% and 100% ethanol, successively, at the room temperature for 1 minute.

(6) A centrifugation was conducted at 550 rpm for 5 minutes, and the slide was dried.

4. Scanning and Analysis

The BAC chip was inserted into a microarray chip analyzer (MAC VIEWER, 2

, A661200) and scanned, to obtain each scanned image through Cy3 filter and Cy5 filter. The scanned image was analyzed by using a BAC chip analyzing program (Macrogen) wherein the information for the genomic DNA fragment potted on the BAC chip had been inputted.

1) Scanning

a. Preparatory Matters Before Using Microarray Chip Analyzer

The microarray chip analyzer was connected to a PC with a built-in PCI. The recommendations for the PC are as follows:

-   -   IBM Pentium III or higher grade     -   Windows NT 4.0 or Windows 2000     -   768 MB RAM or higher     -   Hard disk of 30 GB or more     -   Writable/re-writable CD-ROM     -   1280×1024 display system (16M colors)

When scanning, the channel was selected at cy3 and cy5, and the exposure time was 1 sec. After adjusting the focus, scanning was conducted, and the scanned image was designated as a file name and stored.

2) Analysis

The scan file was operated with BAC Chip Analysis Program (Macrogen) which is an analyzing software containing the information for the BAC chip, to measure Log Ratio Chart.

The final experimental results obtained from the BAC chip show the log2 base T/R values for 1440 BAC clones equally containing all the autosomal chromosomes (1 to 22) and sex chromosome (X and Y) according to the chromosomal order. The T/R value is calculated by dividing the fluorescent intensity (CY3) of the sample by the fluorescent intensity (CY5) of the reference, wherein if the intensities of the fluorescent dyes are the same, the value is 0; if the intensity of the sample is stronger than that of the reference, the value is 0>0.2; and if the intensity of the reference is stronger than that of the sample, the value is 0<0.2. From the chromo-mean of the log2 base T/R values of each chromosome and the chromo-mean graph, the change in the number of chromosomes according to addition or deletion of each chromosome was determined.

In the case of the abnormal chromosome, the chromosome numbers of the sample and the reference were the same as 2 and the fluorescent intensities of the sample and the reference were also the same, and therefore, the chromo-mean of each chromosome became converged to 0. In this case, when a chromosome has an additional mutation, the chromo-mean of the chromosome increased to at least 0.2. In the case of the sex chromosome, according to the number of the chromosomes, the profile was the same with that of the autosomal chromosome, however determined by considering sex of the subjects. Since the reference was made by using male DNA, when the subject is male, the chromo-mean was determined by the same method as used for the autosomal chromosome. However, when the subject is female, the chromo-mean for Y chromosome was lower than −0.4, and the chromo-mean for X chromosome increased to at least 0.2. The abnormality in the number of each chromosome was determined according to the following criterions as shown in Table 22. TABLE 22 Chromosome chromosome kayotype log2T/R mean (M) Chromosome Diploid −0.2 < M < 0.2 number 1 to 22 deletion (Monosomy) M < −0.2 Amplification (Trisomy) M > 0.2 X chromosome Male (XY) −0.2 < M < 0.2 Male, Duploid (XXY) M > 0.2 Female (XX) M > 0.2 Female, −0.2 < M < 0.2 Deletion(Monosomy, XO) Y chromosome Male (XY) −0.4 < M < 0.4 Male, Duploid (XXY) M > 0.4 Female (XX) M < −0.4

[Result]

FIGS. 5 to 14 show the results from diagnosis for the abnormality in the number of the chromosomes in the sample DNA. In FIG. 5, it can be found that the log2 T/R value of X chromosome was 0.421, being higher than 0.2, from which sex of the subject was confirmed as female; the log2 T/R values of the autosomal chromosomes except Chromosome 13 ranged from −0.2 to 0.2, which showed that the autosomal chromosomes except Chromosome 13 are normal; however the log2 T/R value of Chromosome 13 was 0.273, which showed that Chromosome 13 was amplified. That is, the result of FIG. 5 shows that the subject is a female with Patau syndrome.

In FIG. 6, the log2 T/R value of Chromosome 13 was 0.32, the log2 T/R value of X chromosome was 0.011 and the log2 T/R value of Y chromosome was −0.076. From the result, the subject was diagnosed as a male with Patau syndrome.

In FIG. 7, the log2 T/R value of Chromosome 18 was 0.390, the log2 T/R value of X chromosome was −0.004 and the log2 T/R value of Y chromosome was −0.118. From the result, the subject was diagnosed as a male with Edwards syndrome.

In FIG. 8, the log2 T/R value of Chromosome 18 was 0.367, the log2 T/R value of X chromosome was 0.380 and the log2 T/R value of Y chromosome was −1.227. From the result, the subject was diagnosed as a female with Edwards syndrome.

In FIG. 9, the log2 T/R value of Chromosome 21 was 0.263, the log2 T/R value of X chromosome was 0.428 and the log2 T/R value of Y chromosome was −1.186. From the result, the subject was diagnosed as a female with Down's syndrome.

In FIG. 10, the log2 T/R value of Chromosome 21 was 0.260, the log2 T/R value of X chromosome was 0.344 and the log2 T/R value of Y chromosome was −0.149. From the result, it could be known that Chromosome 21 of the subject was amplified and X chromosome was duplicated, resulting in the karyotype of XXY.

In FIG. 11, the log2 T/R value of X chromosome was −0.071 and the log2 T/R value of Y chromosome was −1.987. From the result, the subject was considered to have Turner syndrome with the karyotype of XO.

In FIG. 12, the log2 T/R value of X chromosome was 0.446 and the log2 T/R value of Y chromosome was −0.0091. From the result, the subject was considered to have Klinefelter syndrome with the karyotype of XXY.

In FIG. 13, the log2 T/R value of X chromosome was 0.395 and the log2 T/R value of Y chromosome was −1.131. From the result, the subject was diagnosed as a normal female.

In FIG. 14, the log2 T/R value of X chromosome was −0.010 and the log2 T/R value of Y chromosome was −0.108. From the result, the subject was diagnosed as a normal male.

EXPERIMENTAL EXAMPLE 2

This experimental example was performed by the same method of Experimental Example 1, except that both of the sample and the reference are all labeled with Cye3. When scanning analyzing, the log2 T/R values of spot signals were used, and the analysis was conducted according to the criterions shown in Table 22. FIG. 15 shows the result of the BAC chip analysis from the subject with Down syndrome, wherein the signal showing that Chromosome 21 is duplicated was detected. $$$

While the present invention has been described in detail with reference to the preferred embodiments, those skilled in the art will appreciate that various modifications and substitutions can be made thereto without departing from the spirit and scope of the present invention as set forth in the appended claims. LENGTHY TABLE REFERENCED HERE US20070048742A1-20070301-T00001 Please refer to the end of the specification for access instructions. LENGTHY TABLE The patent application contains a lengthy table section. A copy of the table is available in electronic form from the USPTO web site (http://seqdata.uspto.gov/?pageRequest=docDetail&DocID=US20070048742A1). An electronic copy of the table will also be available from the USPTO upon request and payment of the fee set forth in 37 CFR 1.19(b)(3). 

1. A method of preparation for genomic DNA microarray useful for detecting a chromosome abnormality comprising the steps of: (a) identifying a genomic DNA fragment inserted to each clone which is obtained from an organism's genomic library; (b) selecting a target chromosomal region to be detected detect for chromosome abnormality; (c) selecting from the genomic DNA fragments identified in step (a), at least one genomic DNA fragment as a probe for detecting the target chromosomal region, wherein the probe has a single chromosomal locus, includes repetitive sequence in the amount of at most 85% of the probe nucleotide, and its nucleotide sequence constitute whole or a part of the target chromosomal region, or complementary sequence thereof; and (d) immobilizing the probe in a microarray.
 2. The method of claim 1, wherein the genomic library is a vector selected from the group consisting of Bacterial Artificial Chromosome (BAC), Human Artificial Chromosome (HAC), Transformation competent Artificial Chromosome (TAC), Yeast Artificial Chromosome (YAC), P1-derived Artificial Chromosome (PAC), P1 (phage), and cosmid.
 3. The method of claim 1, wherein the identifying step (a) comprises identification of information selected from the group consisting of nucleotide sequence, chromosomal location, function, and disease-association of the genomic DNA fragment.
 4. The method of claim 1, wherein the genomic DNA in step (a) is at least one selected from the group consisting of table 1-1 to 1-338 as described in the detailed description of the present application.
 5. The method of claim 1, wherein the genomic DNA in step (a) is at least one selected from the group consisting of table 2 as described in the detailed description of the present application.
 6. The method of claim 1, wherein the target chromosomal region in step (b) includes a disease-specific mutation.
 7. The method of claim 1, wherein the probe in step (c) is 10 to 300 kbp of nucleotide, and is immobilized at a concentration of 2 to 100 pg on a spot of the microarray.
 8. The method of claim 1, wherein the microarray includes one or at least two probes immobilized in a spot.
 9. The method of claim 1, wherein the chromosome abnormality is selected from the group consisting of mutation of nucleotide sequence, amplification in the number of chromosomes, deletion in the number of chromosomes, chromosome inversion, and chromosome translocation.
 10. The method of claim 1, wherein the chromosome abnormality is an abnormality of chromosome number, and the abnormality of chromosome number is selected from the group consisting of Down's syndrome, Patau syndrome, Edwards syndrome, Turner syndrome, Klinefelter syndrome, ATR-16 (alpha-thalassemia retardation-16), CMT1A (Charcot-Marie-Tooth neuropathy 1A), Cri-du-chat syndrome, Digeorge syndrome, HNPP disease (Hereditary Neuropathy with Liability to Pressure palsies), Kallmann syndrome, Miller-Dieker syndrome, Prader-willi syndrome, Rubinstein-taybi syndrome, Steroid-sulfatase gene syndrome, Smith-magenes syndrome, Williams syndrome and Wolf-hirschhorn syndrome.
 11. The method of claim 10, wherein the probe for detecting Down's syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 34 of Table 3 as described in the detailed description of the present application, the probe for detecting Patau syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 34 of Table 4 as described in the detailed description of the present application, the probe for detecting Edwards syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 28 of Table 5 as described in the detailed description of the present application, the probe for detecting Turner syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 75 of Table 6 as described in the detailed description of the present application, the probe for detecting Klinefelter syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 10 of Table 7 as described in the detailed description of the present application, the probe for detecting ATR-16 (alpha-thalassemia retardation-16) syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 141 of Table 8 as described in the detailed description of the present application, the probe for detecting CMT1A (Charcot-Marie-Tooth neuropathy 1A) syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 235 of Table 9 as described in the detailed description of the present application, the probe for detecting Cri-du-chat syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 299 of Table 10 as described in the detailed description of the present application, the probe for detecting Digeorge syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 231 of Table 11 as described in the detailed description of the present application, the probe for detecting HNPP (Hereditary Neuropathy with Liability to Pressure palsies) disease is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 165 of Table 12 as described in the detailed description of the present application, the probe for detecting Miller-Dieker syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 137 of Table 13 as described in the detailed description of the present application, the probe for detecting Prader-willi syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 321 of Table 14 as described in the detailed description of the present application, the probe for detecting Rubinstein-taybi syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 141 of Table 15 as described in the detailed description of the present application, the probe for detecting Smith-magenes syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 165 of Table 16 as described in the detailed description of the present application, the probe for detecting Williams syndrome or is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 282 of Table 17 as described in the detailed description of the present application, or the probe for detecting Wolf-hirschhorn syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 72 of Table 18 as described in the detailed description of the present application.
 12. A method of preparation for a microarray comprising a step of immobilizing at least one probe thereon selected from the group consisting of RNA fragment, cDNA fragment, oligomer and genomic DNA fragment, wherein the microarray includes at least two kinds of probes immobilized in one spot, and the immobilized probes includes nucleotide selected from the group consisting of a whole chromosome, a part of a chromosome, and complementary DNA thereof showing the same phenotype in an abnormality of chromosome number, and the phenotype is a gene amplification, or a gene deletion.
 13. The method of claim 12, wherein the genomic DNA fragment is selected from the group consisting of BAC DNA 1 to 25851 of Table 1 and BAC DNA 1 to 1440 of Table 2 as described in the detailed description of the present application.
 14. A microarray for detecting chromosome abnormality, wherein the microarray is prepared according to claim 1 or
 12. 15. A DNA chip for detecting chromosome abnormality in the whole human genomic DNA, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 25851 of Table 1 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 16. A DNA chip for detecting chromosome abnormality in the whole human genomic DNA, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 1440 of Table 2 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 17. A DNA chip for detecting Down's syndrome, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 34 of Table 3 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 18. A DNA chip for detecting Patau syndrome, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 34 of Table 4 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 19. A DNA chip for detecting Edwards syndrome, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 28 of Table 5 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 20. A DNA chip for detecting Turner syndrome, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 75 of Table 6 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 21. A DNA chip for detecting Klinefelter syndrome, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 10 of Table 7 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 22. A DNA chip for detecting ATR-16 syndrome, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 141 of Table 8 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 23. A DNA chip for detecting CMT1A (Charcot-Marie-Tooth neuropathy 1A), the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 235 of Table 9 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 24. A DNA chip for detecting Cri-du-chat syndrome, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 299 of Table 10 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 25. A DNA chip for detecting Digeorge syndrome, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 231 of Table 11 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 26. A DNA chip for detecting HNPP (Hereditary Neuropathy with Liability to Pressure palsies), the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 165 of Table 12 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 27. A DNA chip for detecting Miller-Dieker syndrome, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 137 of Table 13 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 28. A DNA chip for detecting Prader-willi syndrome, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 321 of Table 14 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 29. A DNA chip for detecting Rubinstein-taybi syndrome, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 141 of Table 15 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 30. A DNA chip for detecting Smith-magenes syndrome, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 165 of Table 16 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 31. A DNA chip for detecting Williams syndrome, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 282 of Table 17 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 32. A DNA chip for detecting Wolf-hirschhorn syndrome, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments 1 to 72 of Table 18 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 33. A DNA chip for detecting constitutional diseases checked pre- or post-natally, the DNA chip comprising a microarray containing at least one immobilized genomic DNA fragment selected from the group consisting of DNA fragments of Table 2 to Table 18 as described in the detailed description of the present application, at least one oligomer including 20 to 100 bp of consecutive nucleotide sequence of the genomic DNA fragment, or at least one 100 bp to 10 kbp cDNA derived from the genomic DNA fragment.
 34. A method of detecting chromosome abnormality comprising the steps of: (a) preparing a microarray for detecting chromosome abnormality according to the method of claim 1 or 12; (b) reacting a sample genomic DNA which is labeled by a first detectable labeling material, and a reference DNA labeled by a second detectable labeling material mixed in 1:1 weight ratio, with the probe immobilized on the microarray, and measuring hybridization ratio of the target genomic DNA or the reference DNA with the probe respectively; and (c) analyzing chromosome abnormality of the target genomic DNA on the basis of the hybridization ratio.
 35. The method according to claim 34, wherein the first detectable labeling material and the second detectable labeling material are the same or different.
 36. The method according to claim 34, wherein the labeling material is selected from the group consisting of radioactive isotope, fluorescent material, chemical luminescent, and enzyme.
 37. The method according to claim 34, wherein the sample is tissue, cell, or body fluids which are selected from the group consisting of saliva, blood, urine, semen, and amniotic fluid.
 38. The method according to claim 34, wherein in the step (c), the chromosome abnormality is analyzed as follows: No chromosome abnormality, if the hybridization ratio of the target genomic DNA is the same as that of the reference DNA, Chromosome amplification, if the hybridization ratio of the target genomic DNA is higher than that of the reference DNA. Chromosome deletion, if the hybridization ratio of the target genomic DNA is lower than that of the reference DNA.
 39. A method of detecting chromosome abnormality comprising the steps of: (a) selecting a probe including consecutive 20 to 100 bp of genomic DNA fragment, and immobilizing the probe on a microarray, wherein the genomic DNA fragment is BAC DNA in Table 1 or BAC DNA in Table 2 as described in the detailed description of the present application, and the probe has a single chromosomal locus, and includes repetitive sequence in the amount of at most 85% of the probe nucleotide; (b) reacting the sample genomic DNA in a sample which is labeled by first detectable labeling material, and the reference DNA labeled by second detectable labeling material in the same mixture ratio, with the probe immobilized on the microarray, and measuring hybridization ratio of the sample genomic DNA or the reference DNA with the probe respectively; and (c) deciding chromosome abnormality of the sample genomic DNA on the basis of: No chromosome abnormality, if the hybridization ratio of the sample genomic DNA is the same as that of the reference DNA is decided to produce no chromosome abnormality, Chromosome amplification, if the hybridization ratio of the sample genomic DNA is higher than that of the reference DNA. Chromosome deletion, if the hybridization ratio of the sample genomic DNA is lower than that of the reference DNA.
 40. The method according to claim 39, wherein the microarray includes one or at least two kinds of probes in a spot.
 41. The method according to claim 39, wherein the chromosome abnormality is abnormality of chromosome number selected from the group consisting of Down's syndrome, Patau syndrome, Edwards syndrome, Turner syndrome, Klinefelter syndrome, ATR-16 (alpha-thalassemia retardation-16), syndrome CMT1A (Charcot-Marie-Tooth neuropathy 1A), Cri-du-chat syndrome, Digeorge syndrome, HNPP (Hereditary Neuropathy with Liability to Pressure palsies), Miller-Dieker syndrome, Prader-willi syndrome, Rubinstein-taybi syndrome, Smith-magenes syndrome, Williams syndrome and Wolf-hirschhorn syndrome.
 42. The method according to claim 39, wherein the probe for detecting Down's syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 34 of Table 3 as described in the detailed description of the present application, the probe for detecting Patau syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 34 of Table 4 as described in the detailed description of the present application, the probe for detecting Edwards syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 28 of Table 5 as described in the detailed description of the present application, the probe for detecting Turner syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 75 of Table 6 as described in the detailed description of the present application, the probe for detecting Klinefelter syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 10 of Table 7 as described in the detailed description of the present application, the probe for detecting ATR-16 (alpha-thalassemia retardation-16) syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 141 of Table 8 as described in the detailed description of the present application, the probe for detecting CMT1A (Charcot-Marie-Tooth neuropathy 1A) syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 235 of Table 9 as described in the detailed description of the present application, the probe for detecting Cri-du-chat syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 299 of Table 10 as described in the detailed description of the present application, the probe for detecting Digeorge syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 231 of Table 11 as described in the detailed description of the present application, the probe for detecting HNPP (Hereditary Neuropathy with Liability to Pressure palsies) disease is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 165 of Table 12 as described in the detailed description of the present application, the probe for detecting Miller-Dieker syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 137 of Table 13 as described in the detailed description of the present application, the probe for detecting Prader-willi syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 321 of Table 14 as described in the detailed description of the present application, the probe for detecting Rubinstein-taybi syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 141 of Table 15 as described in the detailed description of the present application, the probe for detecting Smith-magenes syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 165 of Table 16 as described in the detailed description of the present application, the probe for detecting Williams syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 282 of Table 17 as described in the detailed description of the present application, or the probe for detecting Wolf-hirschhorn syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 72 of Table 18 as described in the detailed description of the present application.
 43. A method of detecting abnormality of chromosome number comprising the steps of: (a) immobilizing at least one probe thereon selected from the group consisting of RNA fragment, cDNA fragment, oligomer and genomic DNA fragment, wherein the microarray includes at least two kinds of probes immobilized in a spot, and the probes immobilized in a spot includes a nucleotide selected from the group consisting of a whole chromosome, a part of a chromosome, and complementary DNA thereof showing the same phenotype in an abnormality of chromosome number, and the phenotype is a gene amplification, or a gene deletion. (b) reacting sample genomic DNA in a sample which is labeled by first detectable labeling material, and the reference DNA labeled by second detectable labeling material in the same mixture ratio, with the probe immobilized on the microarray, and measuring hybridization ratio of the sample genomic DNA or the reference DNA with the probe respectively; and (c) deciding chromosome abnormality of the sample genomic DNA on the basis of: No chromosome abnormality, if the hybridization ratio of the sample genomic DNA is the same as that of the reference DNA is decided to produce no chromosome abnormality, Chromosome amplification, if the hybridization ratio of the sample genomic DNA is higher than that of the reference DNA. Chromosome deletion, if the hybridization ratio of the sample genomic DNA is lower than that of the reference DNA.
 44. The method according to claim 43, wherein the probe for detecting Down's syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 34 of Table 3 as described in the detailed description of the present application, or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive nucleotide of the genomic DNA fragments, the probe for detecting Patau syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 34 of Table 4 as described in the detailed description of the present application, or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive nucleotide of the genomic DNA fragments, the probe for detecting Edwards syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 28 of Table 5 as described in the detailed description of the present application or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive nucleotide of the genomic DNA fragments, the probe for detecting Turner syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 75 of Table 6 as described in the detailed description of the present application, or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive nucleotide of the genomic DNA fragments, the probe for detecting Klinefelter syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 10 of Table 7 as described in the detailed description of the present application, or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive nucleotide of the genomic DNA fragments, the probe for detecting ATR-16 (alpha-thalassemia retardation-16) syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 141 of Table 8 as described in the detailed description of the present application, or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive nucleotide of the genomic DNA fragments, the probe for detecting CMT1A (Charcot-Marie-Tooth neuropathy 1A) syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 235 of Table 9 as described in the detailed description of the present application, or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive nucleotide of the genomic DNA fragments, the probe for detecting Cri-du-chat syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 299 of Table 10 as described in the detailed description of the present application, or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive of the genomic DNA fragments, the probe for detecting Digeorge syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 231 of Table 11 as described in the detailed description of the present application, or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive of the genomic DNA fragments, the probe for detecting HNPP (Hereditary Neuropathy with Liability to Pressure palsies) disease is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 165 of Table 12 as described in the detailed description of the present application, or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive nucleotide of the genomic DNA fragments, the probe for detecting Miller-Dieker syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 137 of Table 13 as described in the detailed description of the present application, or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive nucleotide of the genomic DNA fragments, the probe for detecting Prader-willi syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 321 of Table 14 as described in the detailed description of the present application, or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive nucleotide of the genomic DNA fragments, the probe for detecting Rubinstein-taybi syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 141 of Table 15 as described in the detailed description of the present application, or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive nucleotide of the genomic DNA fragments, the probe for detecting Smith-magenes syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragment 1 to 165 of Table 16 as described in the detailed description of the present application, or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive nucleotide of the genomic DNA fragments, the probe for detecting Williams syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 282 of Table 17 as described in the detailed description of the present application, or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive nucleotide of the genomic DNA fragments, or the probe for detecting Wolf-hirschhorn syndrome is at least one genomic DNA fragment selected from the group consisting of DNA fragments 1 to 72 of Table 18 as described in the detailed description of the present application, or is at least one selected from the group consisting of DNA oligomers having 20 bp to 100 bp consecutive nucleotide of the genomic DNA fragments
 45. A method of detecting a disease-specific chromosome abnormality comprising the steps of: (a) identifying a genomic DNA fragment inserted into each clone which is obtained from an organism's genomic library; (b) immobilizing the whole or a part of genomic DNA fragment identified in step (a) on a microarray; (b) reacting the sample genomic DNA of a patient which is labeled by a first detectable labeling material, and a reference DNA labeled by a second detectable labeling material in the same mixture ratio, with the probe immobilized on the microarray, and measuring hybridization ratio of the sample genomic DNA or the reference DNA with the probe respectively; and (c) detecting a region and type of a chromosome abnormality of the patient by analyzing the hybridization ratio.
 46. The method according to claim 45, wherein the first detectable labeling material and the second detectable labeling material are the same or different.
 47. The method according to claim 46, wherein the labeling material is selected from the group consisting of radioactive isotope, fluorescent material, chemical luminescent, and enzyme. 